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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Marinesco-Sjögren Syndrome - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_title" content="Marinesco-Sjögren Syndrome">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2024/10/03">
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<meta name="citation_author" content="Anna-Kaisa Anttonen">
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<meta name="citation_keywords" content="Nucleotide exchange factor SIL1">
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<meta name="citation_keywords" content="SIL1">
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<meta name="citation_keywords" content="Marinesco-Sjögren Syndrome">
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<meta name="DC.Title" content="Marinesco-Sjögren Syndrome">
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<meta name="DC.Contributor" content="Anna-Kaisa Anttonen">
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<meta name="description" content="Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.">
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<meta name="og:description" content="Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.">
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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK1192_"><span class="title" itemprop="name">Marinesco-Sjögren Syndrome</span></h1><p class="contribs">Anttonen AK.</p><p class="fm-aai"><a href="#_NBK1192_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 22 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="mss.Summary" itemprop="description"><h2 id="_mss_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of MSS is established in an individual with typical clinical findings and/or biallelic pathogenic variants in <i>SIL1</i> identified by molecular genetic testing. Electron microscopic ultrastructural changes on muscle biopsy are thought to be specific to MSS.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Symptomatic treatment of muscular manifestations usually by pediatric or adult neurologists and physiatrists and/or physical therapists; developmental support and education programs tailored to the individual's developmental needs; cataract extraction as needed; treatment of strabismus per ophthalmologist; hormone replacement therapy for primary gonadal failure at the expected time of puberty; feeding support as needed for poor weight gain; management of scoliosis and other skeletal manifestations per orthopedist.</p><p><i>Surveillance:</i> Assessment by child or adult neurologist and physiatrist and/or physical therapist annually or as needed; monitor developmental progress and educational needs at each visit; annual ophthalmologic examination beginning in infancy; monitor pubertal development throughout adolescence per endocrinologist; assess growth and feeding at each visit; clinical assessment for scoliosis at each visit, with radiographs as needed.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>MSS is inherited in an autosomal recessive manner. The parents of an affected child are presumed to be heterozygous for an MSS-related pathogenic variant. If both parents are known to be heterozygous for a <i>SIL1</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. If biallelic <i>SIL1</i> pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.</p></div></div><div id="mss.Diagnosis"><h2 id="_mss_Diagnosis_">Diagnosis</h2><p>No consensus clinical diagnostic criteria for Marinesco-Sjögren syndrome (MSS) have been published.</p><div id="mss.Suggestive_Findings"><h3>Suggestive Findings</h3><p>MSS <b>should be suspected</b> in probands with the following findings.</p><p>
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<b>Clinical findings</b>
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</p><ul><li class="half_rhythm"><div>Cerebellar ataxia, dysarthria, and nystagmus</div></li><li class="half_rhythm"><div>Early-onset (not necessarily congenital) cataracts</div></li><li class="half_rhythm"><div>Muscle weakness and hypotonia</div></li><li class="half_rhythm"><div>Psychomotor delay</div></li><li class="half_rhythm"><div>Hypergonadotropic hypogonadism (i.e., primary gonadal failure)</div></li><li class="half_rhythm"><div>Short stature</div></li><li class="half_rhythm"><div>Skeletal abnormalities (scoliosis; shortening of metacarpals, metatarsals, and phalanges; coxa valga; pes planovalgus; and pectus carinatum)</div></li></ul><p>
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<b>Imaging findings</b>
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</p><ul><li class="half_rhythm"><div><b>Brain MRI.</b> Cerebellar atrophy, usually more pronounced in the vermis than the hemispheres and a T<sub>2</sub>-hyperintense cerebellar cortex [<a class="bibr" href="#mss.REF.harting.2004.2448" rid="mss.REF.harting.2004.2448">Harting et al 2004</a>, <a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>]. Note: Age of onset for cerebellar atrophy is unknown; the youngest individuals evaluated with brain MRI have been toddlers [<a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>]. Although the cerebellar atrophy is expected to be progressive, this has not been confirmed with repeated MRIs [A-K Anttonen, personal observation].</div></li><li class="half_rhythm"><div><b>Muscle imaging studies.</b> Severe dystrophy-type muscle tissue replacement with fat and connective tissue [<a class="bibr" href="#mss.REF.mahjneh.2006.301" rid="mss.REF.mahjneh.2006.301">Mahjneh et al 2006</a>]</div></li></ul><p><b>Laboratory findings.</b> Normal or moderately increased serum creatine kinase concentration (usually 2-4 times upper-normal limits)</p><p><b>EMG findings.</b> Myopathic features only</p><p>
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<b>Muscle biopsy findings</b>
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</p><ul><li class="half_rhythm"><div><b>Light microscopy.</b> Nonspecific findings including variation in muscle fiber size, atrophic fibers, fatty replacement, and rimmed vacuole formation [<a class="bibr" href="#mss.REF.herva.1987.164" rid="mss.REF.herva.1987.164">Herva et al 1987</a>, <a class="bibr" href="#mss.REF.suzuki.1997.410" rid="mss.REF.suzuki.1997.410">Suzuki et al 1997</a>]</div></li><li class="half_rhythm"><div><b>Electron microscopy.</b> Autophagic vacuoles, membranous whorls, and electron-dense double-membrane structures associated with nuclei (a specific ultrastructural feature of MSS) [<a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>]</div></li></ul><p><b>Family history</b> is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.</p></div><div id="mss.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p><b>Clinical diagnosis.</b> The clinical diagnosis of MSS <b>can be established</b> in a proband with <a href="#mss.Suggestive_Findings">suggestive findings</a> including characteristic ultrastructural changes on electron microscopy of a muscle biopsy thought to be specific to MSS.</p><p><b>Molecular diagnosis.</b> The molecular diagnosis of MSS <b>is established</b> in a proband with <a href="#mss.Suggestive_Findings">suggestive findings</a> and biallelic pathogenic (or likely pathogenic) variants in <i>SIL1</i> identified by molecular genetic testing (see <a href="/books/NBK1192/table/mss.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobmssTmoleculargenetictestingusedin">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [<a class="bibr" href="#mss.REF.richards.2015.405" rid="mss.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this <i>GeneReview</i> is understood to include likely pathogenic variants. (2) Identification of biallelic <i>SIL1</i> variants of uncertain significance (or of one known <i>SIL1</i> pathogenic variant and one <i>SIL1</i> variant of uncertain significance) does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single gene testing, multigene panel) and <b>comprehensive</b>
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<b>genomic testing</b> (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see <a href="#mss.Option_1">Option 1</a>), whereas comprehensive genomic testing does not (see <a href="#mss.Option_2">Option 2</a>).</p><div id="mss.Option_1"><h4>Option 1</h4><p>When the clinical, imaging, and laboratory findings suggest the diagnosis of MSS, molecular genetic testing approaches can include <b>single-gene testing</b> or use of a <b>multigene panel</b>:</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Single-gene testing.</b> Sequence analysis of <i>SIL1</i> is performed first to detect missense, nonsense, and splice site variants and small intragenic deletions/insertions. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.</div><div class="half_rhythm">Note: Targeted analysis for pathogenic variants can be performed first in individuals of Finnish ancestry (see <a href="/books/NBK1192/table/mss.T.sil1_pathogenic_variants_reference/?report=objectonly" target="object" rid-ob="figobmssTsil1pathogenicvariantsreference">Table 7</a>).</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A neuromuscular, myopathy, ataxia, or cataract multigene panel</b> that includes <i>SIL1</i> and other genes of interest (see <a href="#mss.Differential_Diagnosis">Differential Diagnosis</a>) may be considered to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</div></li></ul></div><div id="mss.Option_2"><h4>Option 2</h4><p>When the diagnosis of MSS is not considered because an individual has atypical phenotypic features, <b>comprehensive genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible. To date, the majority of <i>SIL1</i> pathogenic variants reported (e.g., missense, nonsense) are within the coding region and are likely to be identified on exome sequencing.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTmoleculargenetictestingusedin"><a href="/books/NBK1192/table/mss.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobmssTmoleculargenetictestingusedin"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.molecular_genetic_testing_used_in"><a href="/books/NBK1192/table/mss.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobmssTmoleculargenetictestingusedin">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in Marinesco-Sjögren Syndrome </p></div></div></div></div></div><div id="mss.Clinical_Characteristics"><h2 id="_mss_Clinical_Characteristics_">Clinical Characteristics</h2><div id="mss.Clinical_Description"><h3>Clinical Description</h3><p>Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia, dysarthria, nystagmus, early-onset cataracts, hypotonia, and muscle weakness. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and skeletal abnormalities. To date, at least 140 individuals have been identified with biallelic pathogenic variants in <i>SIL1</i> [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>, <a class="bibr" href="#mss.REF.senderek.2005.1312" rid="mss.REF.senderek.2005.1312">Senderek et al 2005</a>, <a class="bibr" href="#mss.REF.karim.2006.420" rid="mss.REF.karim.2006.420">Karim et al 2006</a>, <a class="bibr" href="#mss.REF.annesi.2007.288" rid="mss.REF.annesi.2007.288">Annesi et al 2007</a>, <a class="bibr" href="#mss.REF.anttonen.2008.961" rid="mss.REF.anttonen.2008.961">Anttonen et al 2008</a>, <a class="bibr" href="#mss.REF.eriguchi.2008.197" rid="mss.REF.eriguchi.2008.197">Eriguchi et al 2008</a>, <a class="bibr" href="#mss.REF.riazuddin.2009.1050" rid="mss.REF.riazuddin.2009.1050">Riazuddin et al 2009</a>, <a class="bibr" href="#mss.REF.takahata.2010.142" rid="mss.REF.takahata.2010.142">Takahata et al 2010</a>, <a class="bibr" href="#mss.REF.terracciano.2012.248" rid="mss.REF.terracciano.2012.248">Terracciano et al 2012</a>, <a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>, <a class="bibr" href="#mss.REF.ezgu.2014.74" rid="mss.REF.ezgu.2014.74">Ezgu et al 2014</a>, <a class="bibr" href="#mss.REF.goto.2014.58" rid="mss.REF.goto.2014.58">Goto et al 2014</a>, <a class="bibr" href="#mss.REF.inaguma.2014.414" rid="mss.REF.inaguma.2014.414">Inaguma et al 2014</a>, <a class="bibr" href="#mss.REF.cerami.2015.112" rid="mss.REF.cerami.2015.112">Cerami et al 2015</a>, <a class="bibr" href="#mss.REF.noreau.2015.315" rid="mss.REF.noreau.2015.315">Noreau et al 2015</a>, <a class="bibr" href="#mss.REF.gai.2016.1" rid="mss.REF.gai.2016.1">Gai et al 2016</a>, <a class="bibr" href="#mss.REF.nair.2016.580" rid="mss.REF.nair.2016.580">Nair et al 2016</a>, <a class="bibr" href="#mss.REF.bayram.2022.np92" rid="mss.REF.bayram.2022.np92">Bayram et al 2022</a>, <a class="bibr" href="#mss.REF.rochdi.2022.51" rid="mss.REF.rochdi.2022.51">Rochdi et al 2022</a>, <a class="bibr" href="#mss.REF.faheem.2024.853" rid="mss.REF.faheem.2024.853">Faheem et al 2024</a>]. The following description of the phenotypic features associated with this condition is based on these reports.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTmarinescosjgrensyndromefrequenc"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_frequenc/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobmssTmarinescosjgrensyndromefrequenc"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.marinescosj_gren_syndrome_frequenc"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_frequenc/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndromefrequenc">Table 2. </a></h4><p class="float-caption no_bottom_margin">Marinesco-Sjögren Syndrome: Frequency of Select Features </p></div></div><p><b>Neuromuscular manifestations.</b> Muscular hypotonia is usually present in early infancy resulting in motor delays. Distal and proximal muscular weakness is noticed during the first decade of life. Many affected individuals are never able to walk without assistance. Fine motor delays may also be present. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity.</p><p><b>Ocular manifestations.</b> Bilateral cataracts are not necessarily congenital and can develop rapidly. The mean age at onset of cataracts is approximately 3.5 years [<a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>, <a class="bibr" href="#mss.REF.goto.2014.58" rid="mss.REF.goto.2014.58">Goto et al 2014</a>]. Cataracts typically require lens extraction in the first decade of life. Strabismus is present in at least half of individuals reported [<a class="bibr" href="#mss.REF.goto.2014.58" rid="mss.REF.goto.2014.58">Goto et al 2014</a>].</p><p><b>Intellectual abilities</b> vary from normal to severe intellectual disability.</p><p><b>Endocrine.</b> Hypergonadotropic hypogonadism and delayed puberty are frequent findings [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>, <a class="bibr" href="#mss.REF.anttonen.2008.961" rid="mss.REF.anttonen.2008.961">Anttonen et al 2008</a>, <a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>], but no associated congenital genital anomalies have been described.</p><p><b>Growth.</b> Many individuals with MSS have short stature [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>, <a class="bibr" href="#mss.REF.anttonen.2008.961" rid="mss.REF.anttonen.2008.961">Anttonen et al 2008</a>]. Microcephaly has occasionally been reported [<a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>].</p><p><b>Skeletal findings.</b> A variable degree of scoliosis is common. Additional typical clinical and radiographic skeletal findings include shortening of the metacarpals, metatarsals, and phalanges; coxa valga; pes planovalgus; and pectus carinatum [<a class="bibr" href="#mss.REF.reinker.2002.399" rid="mss.REF.reinker.2002.399">Reinker et al 2002</a>, <a class="bibr" href="#mss.REF.mahjneh.2006.301" rid="mss.REF.mahjneh.2006.301">Mahjneh et al 2006</a>]. The severity of the skeletal findings appears to correlate with the overall severity of other clinical manifestations [<a class="bibr" href="#mss.REF.mahjneh.2006.301" rid="mss.REF.mahjneh.2006.301">Mahjneh et al 2006</a>].</p><p><b>Life span.</b> Although many adults have severe disabilities, the life span associated with MSS appears to be near normal.</p></div><div id="mss.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>No genotype-phenotype correlations have been reported to date. It should be noted that the severity of intellectual disability and myopathy vary widely among Finnish individuals with MSS, all of whom are homozygous for the same <i>SIL1</i> pathogenic variant.</p></div><div id="mss.Nomenclature"><h3>Nomenclature</h3><p>Previously used terms for Marinesco-Sjögren syndrome:</p><ul><li class="half_rhythm"><div>Garland-Moorhouse syndrome</div></li><li class="half_rhythm"><div>Marinesco-Garland syndrome</div></li><li class="half_rhythm"><div>Hereditary oligophrenic cerebello-lental degeneration</div></li></ul></div><div id="mss.Prevalence"><h3>Prevalence</h3><p>Prevalence is not known. The carrier frequency in Finland has been reported to be approximately 1:96, compared to an estimated worldwide carrier frequency of 1:700 [<a class="bibr" href="#mss.REF.lek.2016.285" rid="mss.REF.lek.2016.285">Lek et al 2016</a>].</p></div></div><div id="mss.Genetically_Related_Allelic_Disorder"><h2 id="_mss_Genetically_Related_Allelic_Disorder_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with germline pathogenic variants in <i>SIL1</i>.</p></div><div id="mss.Differential_Diagnosis"><h2 id="_mss_Differential_Diagnosis_">Differential Diagnosis</h2><p>Genetic disorders with features overlapping those of Marinesco-Sjögren syndrome (MSS) are listed in <a href="/books/NBK1192/table/mss.T.disorders_to_consider_in_the_diffe/?report=objectonly" target="object" rid-ob="figobmssTdisorderstoconsiderinthediffe">Table 3</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTdisorderstoconsiderinthediffe"><a href="/books/NBK1192/table/mss.T.disorders_to_consider_in_the_diffe/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobmssTdisorderstoconsiderinthediffe"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.disorders_to_consider_in_the_diffe"><a href="/books/NBK1192/table/mss.T.disorders_to_consider_in_the_diffe/?report=objectonly" target="object" rid-ob="figobmssTdisorderstoconsiderinthediffe">Table 3. </a></h4><p class="float-caption no_bottom_margin">Disorders to Consider in the Differential Diagnosis of Marinesco-Sjögren Syndrome </p></div></div></div><div id="mss.Management"><h2 id="_mss_Management_">Management</h2><p>No clinical practice guidelines for Marinesco-Sjögren syndrome (MSS) have been published. In the absence of published guidelines, the following recommendations are based on the author's personal experience managing individuals with this disorder.</p><div id="mss.Evaluations_Following_Initial_Diagno"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with MSS, the evaluations summarized in <a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndromerecommen">Table 4</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTmarinescosjgrensyndromerecommen"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobmssTmarinescosjgrensyndromerecommen"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.marinescosj_gren_syndrome_recommen"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndromerecommen">Table 4. </a></h4><p class="float-caption no_bottom_margin">Marinesco-Sjögren Syndrome: Recommended Evaluations Following Initial Diagnosis </p></div></div></div><div id="mss.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see <a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_treatmen/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndrometreatmen">Table 5</a>).</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTmarinescosjgrensyndrometreatmen"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_treatmen/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figobmssTmarinescosjgrensyndrometreatmen"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.marinescosj_gren_syndrome_treatmen"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_treatmen/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndrometreatmen">Table 5. </a></h4><p class="float-caption no_bottom_margin">Marinesco-Sjögren Syndrome: Treatment of Manifestations </p></div></div><div id="mss.Developmental_Delay__Intellectual_Di"><h4>Developmental Delay / Intellectual Disability Management Issues</h4><p>The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.</p><p><b>Ages 0-3 years.</b> Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.</p><p><b>Ages 3-5 years.</b> In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.</p><p><b>All ages.</b> Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:</p><ul><li class="half_rhythm"><div>IEP services:</div><ul><li class="half_rhythm"><div>An IEP provides specially designed instruction and related services to children who qualify.</div></li><li class="half_rhythm"><div>IEP services will be reviewed annually to determine whether any changes are needed.</div></li><li class="half_rhythm"><div>Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.</div></li><li class="half_rhythm"><div>Vision consultants should be a part of the child's IEP team to support access to academic material.</div></li><li class="half_rhythm"><div>PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.</div></li><li class="half_rhythm"><div>As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.</div></li></ul></li><li class="half_rhythm"><div>A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.</div></li><li class="half_rhythm"><div>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.</div></li><li class="half_rhythm"><div>Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.</div></li></ul></div><div id="mss.Motor_Dysfunction"><h4>Motor Dysfunction</h4><p>
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<b>Gross motor dysfunction</b>
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</p><ul><li class="half_rhythm"><div>Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).</div></li><li class="half_rhythm"><div>Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).</div></li><li class="half_rhythm"><div>For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, tizanidine, Botox<sup>®</sup>, anti-parkinsonian medications, or orthopedic procedures.</div></li></ul><p><b>Fine motor dysfunction.</b> Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.</p><p><b>Oral motor dysfunction</b> should be assessed at each visit and clinical feeding evaluations and/or radiographic swallowing studies should be obtained for choking/gagging during feeds, poor weight gain, frequent respiratory illnesses, or feeding refusal that is not otherwise explained. Assuming that the child is safe to eat by mouth, feeding therapy (typically from an occupational or speech therapist) is recommended to help improve coordination or sensory-related feeding issues. Feeds can be thickened or chilled for safety. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary.</p><p><b>Communication issues.</b> Consider evaluation for alternative means of communication (e.g., <a href="https://www.asha.org/NJC/AAC/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">augmentative and alternative communication</a> [AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development.</p></div></div><div id="mss.Surveillance"><h3>Surveillance</h3><p>To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in <a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen_1/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndromerecommen1">Table 6</a> are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTmarinescosjgrensyndromerecommen1"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen_1/?report=objectonly" target="object" title="Table 6. " class="img_link icnblk_img" rid-ob="figobmssTmarinescosjgrensyndromerecommen1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.marinescosj_gren_syndrome_recommen_1"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen_1/?report=objectonly" target="object" rid-ob="figobmssTmarinescosjgrensyndromerecommen1">Table 6. </a></h4><p class="float-caption no_bottom_margin">Marinesco-Sjögren Syndrome: Recommended Surveillance </p></div></div></div><div id="mss.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>After counseling it is possible to clarify the genetic status of apparently asymptomatic at-risk sibs of an affected individual in order to initiate surveillance. Evaluations can include:</p><ul><li class="half_rhythm"><div>Molecular genetic testing if the pathogenic variants in the family are known;</div></li><li class="half_rhythm"><div>Brain MRI or muscle biopsy to help identify features of MSS if the pathogenic variants in the family are not known.</div></li></ul><p>See <a href="#mss.Related_Genetic_Counseling_Issues">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="mss.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="mss.Genetic_Counseling"><h2 id="_mss_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="mss.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Marinesco-Sjögren syndrome (MSS) is inherited in an autosomal recessive manner.</p></div><div id="mss.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The parents of an affected child are presumed to be heterozygous for an MSS-related pathogenic variant.</div></li><li class="half_rhythm"><div>If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for a <i>SIL1</i> pathogenic variant and to allow reliable recurrence risk assessment.</div></li><li class="half_rhythm"><div>If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#mss.REF.j_nsson.2017.519" rid="mss.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have homozygous <i>SIL1</i> pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for a <i>SIL1</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.</div></li><li class="half_rhythm"><div>Intrafamilial variability is observed in MSS; manifestations of the disorder may vary among affected sibs.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p><b>Offspring of a proband.</b> Unless an affected individual's reproductive partner also has MSS or is a carrier, offspring will be obligate heterozygotes (carriers) for an MSS-related pathogenic variant.</p><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of an MSS-related pathogenic variant.</p></div><div id="mss.Carrier_Detection"><h3>Carrier Detection</h3><p>Carrier testing for at-risk relatives requires prior identification of the <i>SIL1</i> pathogenic variants in the family.</p></div><div id="mss.Related_Genetic_Counseling_Issues"><h3>Related Genetic Counseling Issues</h3><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are carriers or are at risk of being carriers.</div></li><li class="half_rhythm"><div>Carrier testing should be considered for the reproductive partners of known carriers and for the reproductive partners of individuals affected with MSS, particularly if both partners are of the same ancestry. A <i>SIL1</i> founder variant has been identified in the Finnish population (see <a href="/books/NBK1192/table/mss.T.sil1_pathogenic_variants_reference/?report=objectonly" target="object" rid-ob="figobmssTsil1pathogenicvariantsreference">Table 7</a>).</div></li></ul><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see <a class="bibr" href="#mss.REF.huang.2022.389" rid="mss.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="mss.Prenatal_Testing_and_Preimplantation"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>If biallelic <i>SIL1</i> pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="mss.Resources"><h2 id="_mss_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>MedlinePlus</b>
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</div><div>
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<a href="https://medlineplus.gov/genetics/condition/marinesco-sjogren-syndrome/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Marinesco-Sjögren syndrome</a>
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</div></li></ul>
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</div><div id="mss.Molecular_Genetics"><h2 id="_mss_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssmolgenTA"><a href="/books/NBK1192/table/mss.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobmssmolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.molgen.TA"><a href="/books/NBK1192/table/mss.molgen.TA/?report=objectonly" target="object" rid-ob="figobmssmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">Marinesco-Sjogren Syndrome: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssmolgenTB"><a href="/books/NBK1192/table/mss.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobmssmolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.molgen.TB"><a href="/books/NBK1192/table/mss.molgen.TB/?report=objectonly" target="object" rid-ob="figobmssmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for Marinesco-Sjogren Syndrome (View All in OMIM) </p></div></div><div id="mss.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>SIL1</i> encodes nucleotide exchange factor SIL1 (also known as BAP [<i>B</i>iP-<i>a</i>ssociated <i>p</i>rotein]) for the endoplasmic reticulum (ER) resident heat-shock protein 70 chaperone BiP (also known as GRP78) [<a class="bibr" href="#mss.REF.tyson.2000.6440" rid="mss.REF.tyson.2000.6440">Tyson & Stirling 2000</a>, <a class="bibr" href="#mss.REF.chung.2002.47557" rid="mss.REF.chung.2002.47557">Chung et al 2002</a>]. As a nucleotide exchange factor, SIL1 induces ADP release and ATP binding of BiP. BiP is encoded by <i>HSPA5</i>; it functions in protein translocation, synthesis, and quality control and senses and responds to stressful cellular conditions [<a class="bibr" href="#mss.REF.hendershot.2004.289" rid="mss.REF.hendershot.2004.289">Hendershot 2004</a>]. Marinesco-Sjögren syndrome (MSS) thus joins the group of protein-processing diseases.</p><p>Most of the MSS-associated <i>SIL1</i> pathogenic variants predict protein truncation likely to render the protein nonfunctional or to cause the transcript or protein to be degraded. The consequence of the three splice site variants reported in intron 6 and intron 9, resulting in in-frame deleted <i>SIL1</i> variants, could be either incorrect folding or absence of important functional domains [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>, <a class="bibr" href="#mss.REF.senderek.2005.1312" rid="mss.REF.senderek.2005.1312">Senderek et al 2005</a>]. In persons who have in-frame deleted <i>SIL1</i> variants, immunohistochemical staining is present, indicating that the variant(s) are translated [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>].</p><p>In transiently transfected COS-1 cells, an MSS-associated missense <i>SIL1</i> variant formed aggregates within the ER, implying that aggregation of the variant protein may contribute to MSS pathogenesis. Similar aggregations were found while studying an artificial pathogenic variant deleting the last four amino acids (the putative ER retrieval signal) of SIL1 [<a class="bibr" href="#mss.REF.anttonen.2008.961" rid="mss.REF.anttonen.2008.961">Anttonen et al 2008</a>].</p><p><b>Mechanism of disease causation.</b> Loss of function</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmssTsil1pathogenicvariantsreference"><a href="/books/NBK1192/table/mss.T.sil1_pathogenic_variants_reference/?report=objectonly" target="object" title="Table 7. " class="img_link icnblk_img" rid-ob="figobmssTsil1pathogenicvariantsreference"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mss.T.sil1_pathogenic_variants_reference"><a href="/books/NBK1192/table/mss.T.sil1_pathogenic_variants_reference/?report=objectonly" target="object" rid-ob="figobmssTsil1pathogenicvariantsreference">Table 7. </a></h4><p class="float-caption no_bottom_margin"><i>SIL1</i> Pathogenic Variants Referenced in This <i>GeneReview</i> </p></div></div></div></div><div id="mss.Chapter_Notes"><h2 id="_mss_Chapter_Notes_">Chapter Notes</h2><div id="mss.Author_Notes"><h3>Author Notes</h3><p>Dr Anttonen is actively involved in clinical research regarding individuals with Marinesco-Sjögren syndrome (MSS) and would be happy to communicate with persons who have any questions regarding the diagnosis of MSS or other considerations.</p></div><div id="mss.Author_History"><h3>Author History</h3><p>Anna-Kaisa Anttonen, MD, PhD (2006-present)<br />Anna-Elina Lehesjoki, MD, PhD; University of Helsinki (2006-2019)</p></div><div id="mss.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>3 October 2024 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>10 January 2019 (ha) Comprehensive update posted live</div></li><li class="half_rhythm"><div>7 September 2010 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>29 November 2006 (me) Review posted live</div></li><li class="half_rhythm"><div>6 July 2006 (ael) Original submission</div></li></ul></div></div><div id="mss.References"><h2 id="_mss_References_">References</h2><div id="mss.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.annesi.2007.288">Annesi
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G, Aguglia
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U, Tarantino
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P, Annesi
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F, De Marco
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EV, Civitelli
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D, Torroni
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A, Quattrone
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A. SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases.
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Clin Genet.
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2007;71:288–9.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/17309654" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17309654</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.anttonen.2005.1309">Anttonen
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AK, Mahjneh
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I, Hamalainen
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RH, Lagier-Tourenne
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C, Kopra
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O, Waris
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L, Anttonen
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M, Joensuu
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T, Kalimo
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H, Paetau
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A, Tranebjaerg
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L, Chaigne
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D, Koenig
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M, Eeg-Olofsson
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O, Udd
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B, Somer
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M, Somer
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H, Lehesjoki
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AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.
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Nat Genet.
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2005;37:1309–11.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/16282978" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16282978</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.anttonen.2008.961">Anttonen
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AK, Siintola
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E, Tranebjaerg
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L, Iwata
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NK, Bijlsma
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EK, Meguro
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H, Ichikawa
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Y, Goto
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J, Kopra
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O, Lehesjoki
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AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome.
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Eur J Hum Genet.
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2008;16:961–9.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/18285827" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18285827</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.bayram.2022.np92">Bayram
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N, Kaçar Bayram
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A, Daimagüler
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HS, Dafsari
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HS, Bamborschke
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D, Uyanik
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G, Erdogan
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M, Özsaygılı
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C, Pangal
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E, Yuvaci
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İ, Doğanay
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S, Gümüş
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H, Per
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H, Jungbluth
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H, Çırak
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S. Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: case report and literature review.
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Eur J Ophthalmol.
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2022;32:NP92-NP97.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/34075802" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34075802</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.cerami.2015.112">Cerami
|
|
C, Tarantino
|
|
P, Cupidi
|
|
C, Annesi
|
|
G, Lo Re
|
|
V, Gagliardi
|
|
M, Piccoli
|
|
T, Quattrone
|
|
A. Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.
|
|
J Neurol Sci.
|
|
2015;354:112–3.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/25982182" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25982182</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.chung.2002.47557">Chung
|
|
KT, Shen
|
|
Y, Hendershot
|
|
LM. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.
|
|
J Biol Chem.
|
|
2002;277:47557–63.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12356756" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12356756</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.eriguchi.2008.197">Eriguchi
|
|
M, Mizuta
|
|
H, Kurohara
|
|
K, Fujitake
|
|
J, Kuroda
|
|
Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjogren syndrome.
|
|
J Neurol Sci.
|
|
2008;270:197–200.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/18395226" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18395226</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.ezgu.2014.74">Ezgu
|
|
F, Krejci
|
|
P, Li
|
|
S, de Sousa
|
|
C, Graham
|
|
JM
|
|
Jr, Hansmann
|
|
I, He
|
|
W, Porpora
|
|
K, Wand
|
|
D, Wertelecki
|
|
W, Schneider
|
|
A, Wilcox
|
|
WR. Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome.
|
|
Clin Genet.
|
|
2014;86:74-84.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/23829326" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23829326</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.faheem.2024.853">Faheem
|
|
A, Masud
|
|
R, Nasir
|
|
R, Awan
|
|
ZK, Nasir
|
|
HA, Khan
|
|
ZK, Fayyaz
|
|
H, Raza
|
|
SI. Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients.
|
|
Mol Biol Rep.
|
|
2024;51:853.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/39060875" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 39060875</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.gai.2016.1">Gai
|
|
N, Jiang
|
|
C, Zou
|
|
YY, Zheng
|
|
Y, Liang
|
|
DS, Wu
|
|
LQ. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.
|
|
Clin Chim Acta.
|
|
2016;458:1–4.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/27106665" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27106665</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.goto.2014.58">Goto
|
|
M, Okada
|
|
M, Komaki
|
|
H, Sugai
|
|
K, Sasaki
|
|
M, Noguchi
|
|
S, Nonaka
|
|
I, Nishino
|
|
I, Hayashi
|
|
YK. A nationwide survey on Marinesco-Sjögren syndrome in Japan.
|
|
Orphanet J Rare Dis.
|
|
2014;9:58.
|
|
[<a href="/pmc/articles/PMC4021608/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4021608</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24755310" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24755310</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.harting.2004.2448">Harting
|
|
I, Blaschek
|
|
A, Wolf
|
|
NI, Seitz
|
|
A, Haupt
|
|
M, Goebel
|
|
HH, Rating
|
|
D, Sartor
|
|
K, Ebinger
|
|
F. T2-hyperintense cerebellar cortex in Marinesco-Sjogren syndrome.
|
|
Neurology.
|
|
2004;63:2448–9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/15623732" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15623732</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.haugarvoll.2017.e0169309">Haugarvoll
|
|
K, Johansson
|
|
S, Rodriguez
|
|
CE, Boman
|
|
H, Haukanes
|
|
BI, Bruland
|
|
O, Roque
|
|
F, Jonassen
|
|
I, Blomqvist
|
|
M, Telstad
|
|
W, Månsson
|
|
JE, Knappskog
|
|
PM, Bindoff
|
|
LA. GBA2 mutations cause a Marinesco-Sjögren-like syndrome: genetic and biochemical studies.
|
|
PLoS One.
|
|
2017;12:e0169309.
|
|
[<a href="/pmc/articles/PMC5215700/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5215700</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28052128" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28052128</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.hendershot.2004.289">Hendershot
|
|
LM. The ER function BiP is a master regulator of ER function.
|
|
Mt Sinai J Med.
|
|
2004;71:289–97.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/15543429" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15543429</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.herva.1987.164">Herva
|
|
R, von Wendt
|
|
L, von Wendt
|
|
G, Saukkonen
|
|
AL, Leisti
|
|
J, Dubowitz
|
|
V. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.
|
|
Neuropediatrics.
|
|
1987;18:164–9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/3683758" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 3683758</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.huang.2022.389">Huang
|
|
SJ, Amendola
|
|
LM, Sternen
|
|
DL. Variation among DNA banking consent forms: points for clinicians to bank on.
|
|
J Community Genet.
|
|
2022;13:389-97.
|
|
[<a href="/pmc/articles/PMC9314484/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9314484</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35834113" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35834113</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.inaguma.2014.414">Inaguma
|
|
Y, Hamada
|
|
N, Tabata
|
|
H, Iwamoto
|
|
I, Mizuno
|
|
M, Nishimura
|
|
YV, Ito
|
|
H, Morishita
|
|
R, Suzuki
|
|
M, Ohno
|
|
K, Kumagai
|
|
T, Nagata
|
|
K. SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
|
|
EMBO Mol Med.
|
|
2014;6:414–29.
|
|
[<a href="/pmc/articles/PMC3958314/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3958314</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24473200" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24473200</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.j_nsson.2017.519">Jónsson
|
|
H, Sulem
|
|
P, Kehr
|
|
B, Kristmundsdottir
|
|
S, Zink
|
|
F, Hjartarson
|
|
E, Hardarson
|
|
MT, Hjorleifsson
|
|
KE, Eggertsson
|
|
HP, Gudjonsson
|
|
SA, Ward
|
|
LD, Arnadottir
|
|
GA, Helgason
|
|
EA, Helgason
|
|
H, Gylfason
|
|
A, Jonasdottir
|
|
A, Jonasdottir
|
|
A, Rafnar
|
|
T, Frigge
|
|
M, Stacey
|
|
SN, Th Magnusson
|
|
O, Thorsteinsdottir
|
|
U, Masson
|
|
G, Kong
|
|
A, Halldorsson
|
|
BV, Helgason
|
|
A, Gudbjartsson
|
|
DF, Stefansson
|
|
K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
|
|
Nature.
|
|
2017;549:519-22.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/28959963" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28959963</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.karim.2006.420">Karim
|
|
MA, Parsian
|
|
AJ, Cleves
|
|
MA, Bracey
|
|
J, Elsayed
|
|
MS, Elsobky
|
|
E, Parsian
|
|
A. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree.
|
|
Clin Genet.
|
|
2006;70:420–3.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/17026626" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17026626</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.krieger.2013.3634">Krieger
|
|
M, Roos
|
|
A, Stendel
|
|
C, Claeys
|
|
KG, Sonmez
|
|
FM, Baudis
|
|
M, Bauer
|
|
P, Bornemann
|
|
A, de Goede
|
|
C, Dufke
|
|
A, Finkel
|
|
RS, Goebel
|
|
HH, Häussler
|
|
M, Kingston
|
|
H, Kirschner
|
|
J, Medne
|
|
L, Muschke
|
|
P, Rivier
|
|
F, Rudnik-Schöneborn
|
|
S, Spengler
|
|
S, Inzana
|
|
F, Stanzial
|
|
F, Benedicenti
|
|
F, Synofzik
|
|
M, Lia Taratuto
|
|
A, Pirra
|
|
L, Tay
|
|
SK, Topaloglu
|
|
H, Uyanik
|
|
G, Wand
|
|
D, Williams
|
|
D, Zerres
|
|
K, Weis
|
|
J, Senderek
|
|
J. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
|
|
Brain.
|
|
2013;136:3634–44.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/24176978" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24176978</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.lek.2016.285">Lek
|
|
M, Karczewski
|
|
KJ, Minikel
|
|
EV, Samocha
|
|
KE, Banks
|
|
E, Fennell
|
|
T, O'Donnell-Luria
|
|
AH, Ware
|
|
JS, Hill
|
|
AJ, Cummings
|
|
BB, et al.
|
|
Analysis of protein-coding genetic variation in 60,706 humans.
|
|
Nature.
|
|
2016;536:285–91.
|
|
[<a href="/pmc/articles/PMC5018207/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5018207</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27535533" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27535533</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.mahjneh.2006.301">Mahjneh
|
|
I, Anttonen
|
|
AK, Somer
|
|
M, Paetau
|
|
A, Lehesjoki
|
|
AE, Somer
|
|
H, Udd
|
|
B. Myopathy is a prominent feature in Marinesco-Sjogren syndrome: a muscle computed tomography study.
|
|
J Neurol.
|
|
2006;253:301–6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16151599" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16151599</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.mccormick.2018.714">McCormick
|
|
EM, Zolkipli-Cunningham
|
|
Z, Falk
|
|
MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
|
|
Curr Opin Pediatr.
|
|
2018;30:714-24.
|
|
[<a href="/pmc/articles/PMC6467265/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6467265</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30199403" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30199403</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.nair.2016.580">Nair
|
|
P, Hamzeh
|
|
AR, Mohamed
|
|
M, Tawfiq
|
|
N, Al-Ali
|
|
MT, Bastaki
|
|
F. Marinesco-Sjögren syndrome in an Emirati child with a novel mutation in SIL1 affecting the 5' untranslated region.
|
|
Med Princ Pract.
|
|
2016;25:580–2.
|
|
[<a href="/pmc/articles/PMC5588509/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5588509</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27544240" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27544240</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.noreau.2015.315">Noreau
|
|
A, La Piana
|
|
R, Marcoux
|
|
C, Dion
|
|
PA, Brais
|
|
B, Bernard
|
|
G, Rouleau
|
|
GA, et al.
|
|
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.
|
|
Neurogenetics.
|
|
2015;16:315–8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/26260654" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26260654</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.reinker.2002.399">Reinker
|
|
K, Hsia
|
|
YE, Rimoin
|
|
DL, Henry
|
|
G, Yuen
|
|
J, Powell
|
|
B, Wilcox
|
|
WR. Orthopaedic manifestations of Marinesco-Sjogren syndrome.
|
|
J Pediatr Orthop.
|
|
2002;22:399–403.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/11961464" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11961464</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.riazuddin.2009.1050">Riazuddin
|
|
SA, Amiri-Kordestani
|
|
L, Kaul
|
|
H, Butt
|
|
T, Jiao
|
|
X, Riazuddin
|
|
S, Hejtmancik
|
|
JF. Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
|
|
Mol Vis.
|
|
2009;15:1050–6.
|
|
[<a href="/pmc/articles/PMC2685889/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2685889</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19471582" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19471582</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.richards.2015.405">Richards
|
|
S, Aziz
|
|
N, Bale
|
|
S, Bick
|
|
D, Das
|
|
S, Gastier-Foster
|
|
J, Grody
|
|
WW, Hegde
|
|
M, Lyon
|
|
E, Spector
|
|
E, Voelkerding
|
|
K, Rehm
|
|
HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
|
|
Genet Med.
|
|
2015;17:405-24.
|
|
[<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.rochdi.2022.51">Rochdi
|
|
K, Cerino
|
|
M, Da Silva
|
|
N, Delague
|
|
V, Bouzidi
|
|
A, Nahili
|
|
H, Zouiri
|
|
G, Kriouile
|
|
Y, Gorokhova
|
|
S, Bartoli
|
|
M, Saïle
|
|
R, Barakat
|
|
A, Krahn
|
|
M. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
|
|
Clin Chim Acta.
|
|
2022;524:51-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/34852264" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34852264</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.senderek.2005.1312">Senderek
|
|
J, Krieger
|
|
M, Stendel
|
|
C, Bergmann
|
|
C, Moser
|
|
M, Breitbach-Faller
|
|
N, Rudnik-Schoneborn
|
|
S, Blaschek
|
|
A, Wolf
|
|
NI, Harting
|
|
I, North
|
|
K, Smith
|
|
J, Muntoni
|
|
F, Brockington
|
|
M, Quijano-Roy
|
|
S, Renault
|
|
F, Herrmann
|
|
R, Hendershot
|
|
LM, Schroder
|
|
JM, Lochmuller
|
|
H, Topaloglu
|
|
H, Voit
|
|
T, Weis
|
|
J, Ebinger
|
|
F, Zerres
|
|
K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.
|
|
Nat Genet.
|
|
2005;37:1312–4.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16282977" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16282977</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.stenson.2020.1197">Stenson
|
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PD, Mort
|
|
M, Ball
|
|
EV, Chapman
|
|
M, Evans
|
|
K, Azevedo
|
|
L, Hayden
|
|
M, Heywood
|
|
S, Millar
|
|
DS, Phillips
|
|
AD, Cooper
|
|
DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
|
|
Hum Genet.
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|
2020;139:1197-207.
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|
[<a href="/pmc/articles/PMC7497289/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7497289</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32596782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32596782</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.suzuki.1997.410">Suzuki
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Y, Murakami
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N, Goto
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Y, Orimo
|
|
S, Komiyama
|
|
A, Kuroiwa
|
|
Y, Nonaka
|
|
I. Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome.
|
|
Acta Neuropathol.
|
|
1997;94:410–5.
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9386772" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9386772</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.takahata.2010.142">Takahata
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T, Yamada
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K, Yamada
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Y, Ono
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S, Kinoshita
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A, Matsuzaka
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T, Yoshiura
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K, Kitaoka
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T. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
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J Hum Genet.
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2010;55:142–6.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/20111056" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20111056</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.terracciano.2012.248">Terracciano
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A, Renaldo
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F, Zanni
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G, D'Amico
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A, Pastore
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A, Barresi
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S, Valente
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EM, Piemonte
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F, Tozzi
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G, Carrozzo
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R, Valeriani
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M, Boldrini
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R, Mercuri
|
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E, Santorelli
|
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FM, Bertini
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E. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
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Eur J Paediatr Neurol.
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2012;16:248–56.
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[<a href="/pmc/articles/PMC3341568/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3341568</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21873089" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21873089</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mss.REF.tyson.2000.6440">Tyson
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JR, Stirling
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CJ. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum.
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EMBO J.
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2000;19:6440–52.
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[<a href="/pmc/articles/PMC305876/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC305876</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/11101517" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11101517</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK1192_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Anna-Kaisa Anttonen</span>, MD, PhD<div class="affiliation small">Medical and Clinical Genetics<br />University of Helsinki and Helsinki University Hospital<br />Helsinki, Finland<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="if.suh@nenottna.asiak-anna" class="oemail">if.suh@nenottna.asiak-anna</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">November 29, 2006</span>; Last Update: <span itemprop="dateModified">October 3, 2024</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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a registered trademark of the University of Washington, Seattle. All rights
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reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
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hereby granted to reproduce, distribute, and translate copies of content materials for
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noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
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Washington) are included with each copy; (ii) a link to the original material is provided
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whenever the material is published elsewhere on the Web; and (iii) reproducers,
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distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
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use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Anttonen AK. Marinesco-Sjögren Syndrome. 2006 Nov 29 [Updated 2024 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/msud/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/dup15q/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobmssTmoleculargenetictestingusedin"><div id="mss.T.molecular_genetic_testing_used_in" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Marinesco-Sjögren Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.molecular_genetic_testing_used_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.molecular_genetic_testing_used_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants <sup>2</sup> Identified by Method</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SIL1</i>
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</td><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~55% <sup>4</sup></td></tr><tr><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~5% <sup>4</sup></td></tr><tr><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_mss.T.molecular_genetic_testing_used_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~40% <sup>6</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mss.TF.1.1"><p class="no_margin">See <a href="/books/NBK1192/?report=reader#mss.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="mss.TF.1.2"><p class="no_margin">See <a href="#mss.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="mss.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="mss.TF.1.4"><p class="no_margin">Data derived from the subscription-based professional view of Human Gene Mutation Database [<a class="bibr" href="#mss.REF.stenson.2020.1197" rid="mss.REF.stenson.2020.1197">Stenson et al 2020</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="mss.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="mss.TF.1.6"><p class="no_margin">Approximately 40% of individuals with characteristic findings of Marinesco-Sjögren syndrome do not have identifiable pathogenic variants in <i>SIL1</i>, suggesting heterogeneity [<a class="bibr" href="#mss.REF.senderek.2005.1312" rid="mss.REF.senderek.2005.1312">Senderek et al 2005</a>, <a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al 2013</a>, <a class="bibr" href="#mss.REF.goto.2014.58" rid="mss.REF.goto.2014.58">Goto et al 2014</a>].</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmssTmarinescosjgrensyndromefrequenc"><div id="mss.T.marinescosj_gren_syndrome_frequenc" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Marinesco-Sjögren Syndrome: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_frequenc/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.marinescosj_gren_syndrome_frequenc_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons w/Feature</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cerebellar ataxia</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>90%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cerebellar atrophy</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hypotonia</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%-100%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cataracts</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%-100%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Intellectual disability</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>90%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mild to severe</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Myopathic changes</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>90%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">On EMG or muscle biopsy</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Strabismus</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">60%-80%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hypergonadotropic hypogonadism</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50%-70%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Short stature</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50%-70%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Nystagmus</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Orthopedic manifestations</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_frequenc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Scoliosis; shortening of the metacarpals, metatarsals, & phalanges; coxa valga; pes planovalgus; & pectus carinatum</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Based on <a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al [2005]</a>, <a class="bibr" href="#mss.REF.senderek.2005.1312" rid="mss.REF.senderek.2005.1312">Senderek et al [2005]</a>, <a class="bibr" href="#mss.REF.anttonen.2008.961" rid="mss.REF.anttonen.2008.961">Anttonen et al [2008]</a>, <a class="bibr" href="#mss.REF.riazuddin.2009.1050" rid="mss.REF.riazuddin.2009.1050">Riazuddin et al [2009]</a>, <a class="bibr" href="#mss.REF.krieger.2013.3634" rid="mss.REF.krieger.2013.3634">Krieger et al [2013]</a>, <a class="bibr" href="#mss.REF.ezgu.2014.74" rid="mss.REF.ezgu.2014.74">Ezgu et al [2014]</a>, <a class="bibr" href="#mss.REF.goto.2014.58" rid="mss.REF.goto.2014.58">Goto et al [2014]</a></p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmssTdisorderstoconsiderinthediffe"><div id="mss.T.disorders_to_consider_in_the_diffe" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Disorders to Consider in the Differential Diagnosis of Marinesco-Sjögren Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.disorders_to_consider_in_the_diffe/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.disorders_to_consider_in_the_diffe_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Features of Disorder</th></tr><tr><th headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4" id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/MSS</th><th headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4" id="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from MSS</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>350 genes <sup>1</sup></td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/mt-overview/?report=reader">Primary mitochondrial disorders</a>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR<br />Mat<br />XL</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Myopathy</div></li><li class="half_rhythm"><div>Cerebellar atrophy & ataxia</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Encephalopathy, seizures, dementia, migraine, & stroke-like episodes often present</div></li><li class="half_rhythm"><div>↑ plasma/CSF lactate concentration</div></li><li class="half_rhythm"><div>Cardiomyopathy</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CTDP1</i>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/ccfdn/?report=reader"><i>CTDP1</i>-related congenital cataracts, facial dysmorphism, and neuropathy</a> <sup>2</sup></td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Cataracts</div></li><li class="half_rhythm"><div>DD</div></li><li class="half_rhythm"><div>Short stature</div></li><li class="half_rhythm"><div>Hypogonadism</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Hypo- or demyelinating neuropathy & postinfectious rhabdomyolysis</div></li><li class="half_rhythm"><div>Absence of cerebellar atrophy & myopathy</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GBA2</i>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spastic paraplegia 46 <sup>3</sup> (OMIM <a href="https://omim.org/entry/614409" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614409</a>)</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ataxia by early childhood</div></li><li class="half_rhythm"><div>Normal early psychomotor development; mild progressive cognitive decline accompanies other progressive CNS findings</div></li><li class="half_rhythm"><div>Bilateral cataracts later in disease course</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Lower-limb spasticity</div></li><li class="half_rhythm"><div>Axonal peripheral neuropathy</div></li><li class="half_rhythm"><div>Significantly ↑ concentrations of glucosylceramide in both erythrocytes & plasma</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>INPP5K</i>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Muscular dystrophy, congenital, w/cataracts & ID (OMIM <a href="https://omim.org/entry/617404" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617404</a>)</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Myopathy, muscle weakness, & hypotonia</div></li><li class="half_rhythm"><div>Cataracts</div></li><li class="half_rhythm"><div>Strabismus</div></li><li class="half_rhythm"><div>Short stature</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Normal findings on brain MRI, absence of cerebellar atrophy</div></li><li class="half_rhythm"><div>Absence of ataxia</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ITM2B</i>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>ITM2B</i>-related cerebral amyloid angiopathy (OMIM <a href="https://omim.org/entry/117300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">117300</a>)</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Cataracts</div></li><li class="half_rhythm"><div>Ataxia</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Dementia (or psychosis)</div></li><li class="half_rhythm"><div>Cataracts & ataxia later in onset than in MSS</div></li><li class="half_rhythm"><div>Absence of manifestations in childhood & cerebellar atrophy</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>VLDLR</i>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/vldlr-ch/?report=reader"><i>VLDLR</i> cerebellar hypoplasia</a>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Congenital ataxia (predominantly truncal) resulting in delayed ambulation</div></li><li class="half_rhythm"><div>Cerebellar atrophy</div></li><li class="half_rhythm"><div>Moderate-to-profound ID</div></li><li class="half_rhythm"><div>Dysarthria</div></li><li class="half_rhythm"><div>Strabismus</div></li></ul>
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</td><td headers="hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_1_4 hd_h_mss.T.disorders_to_consider_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Non-progressive clinical course</div></li><li class="half_rhythm"><div>Absence of progressive myopathy & ↑ serum CK concentration</div></li></ul>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; CK = creatine kinase; CNS = central nervous system; CSF = cerebrospinal fluid; DD = developmental delay; ID = intellectual disability; Mat = maternal; MOI = mode of inheritance; MSS = Marinesco-Sjögren syndrome</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mss.TF.3.1"><p class="no_margin">
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<a class="bibr" href="#mss.REF.mccormick.2018.714" rid="mss.REF.mccormick.2018.714">McCormick et al [2018]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="mss.TF.3.2"><p class="no_margin">To date, <i>CTDP1</i>-related congenital cataracts, facial dysmorphism, and neuropathy has only been reported in persons of Romani ancestry.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="mss.TF.3.3"><p class="no_margin">
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<a class="bibr" href="#mss.REF.haugarvoll.2017.e0169309" rid="mss.REF.haugarvoll.2017.e0169309">Haugarvoll et al [2017]</a>
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</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmssTmarinescosjgrensyndromerecommen"><div id="mss.T.marinescosj_gren_syndrome_recommen" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Marinesco-Sjögren Syndrome: Recommended Evaluations Following Initial Diagnosis</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.marinescosj_gren_syndrome_recommen_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic / physical medicine & rehab / PT & OT eval</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval of motor skills w/special attention to muscle strength & cerebellar function</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Development</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Developmental assessment</div></li><li class="half_rhythm"><div>Assessment of intellectual abilities in older children, particularly before school age</div></li></ul>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl adaptive, cognitive, & speech-language eval</div></li><li class="half_rhythm"><div>Eval for early intervention / special education</div></li></ul>
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</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Ocular manifestations</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic exam for cataracts & strabismus</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Endocrine</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Endocrinologic eval for hypergonadotropic hypogonadism & delayed puberty</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Growth/Nutrition</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Assessment of height, weight, & head circumference</div></li><li class="half_rhythm"><div>Assessment for feeding issues</div></li></ul>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Skeletal manifestations</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of skeletal manifestations incl scoliosis</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic counseling</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of MSS to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
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<br />
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<b>& resources</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By clinicians, wider care team, & family support organizations</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of family & social structure to determine need for:
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<ul><li class="half_rhythm"><div>Community or <a href="#mss.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a></div></li><li class="half_rhythm"><div>Social work involvement for parental support</div></li><li class="half_rhythm"><div>Home nursing referral</div></li></ul>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">MOI = mode of inheritance; MSS = Marinesco-Sjögren syndrome; PT = physical therapy; OT = occupational therapy</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mss.TF.4.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmssTmarinescosjgrensyndrometreatmen"><div id="mss.T.marinescosj_gren_syndrome_treatmen" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Marinesco-Sjögren Syndrome: Treatment of Manifestations</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_treatmen/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.marinescosj_gren_syndrome_treatmen_lrgtbl__"><table><thead><tr><th id="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment of muscular manifestations is symptomatic.</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Affected persons are usually managed by pediatric or adult neurologists & physiatrists &/or physical therapists.</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Developmental delay /</b>
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<br />
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<b>Intellectual disability /</b>
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<br />
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<b>Neurobehavioral issues</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="#mss.Developmental_Delay__Intellectual_Di">Developmental Delay / Intellectual Disability Management Issues</a>.</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cataracts</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Surgical removal of cataracts during 1st decade of life</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Strabismus</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment per ophthalmologist</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hypergonadotropic hypogonadism</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hormone replacement therapy at expected time of puberty</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment can help to prevent osteoporosis.</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Poor weight gain</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feeding support</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Scoliosis & other skeletal manifestations</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mgmt per orthopedist</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_treatmen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobmssTmarinescosjgrensyndromerecommen1"><div id="mss.T.marinescosj_gren_syndrome_recommen_1" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Marinesco-Sjögren Syndrome: Recommended Surveillance</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.marinescosj_gren_syndrome_recommen_1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.marinescosj_gren_syndrome_recommen_1_lrgtbl__"><table><thead><tr><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment by child or adult neurologist & physiatrist &/or physical therapist</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually or as needed</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Development</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitoring of developmental progress & educational needs</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Cataracts/Strabismus</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic exam to monitor for development of cataracts & strabismus</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually or as needed beginning in infancy</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hypergonadotropic hypogonadism</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitoring of pubertal development</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Throughout adolescence per endocrinologist</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Growth/Nutrition</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of growth & feeding</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Scoliosis</b>
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</td><td headers="hd_h_mss.T.marinescosj_gren_syndrome_recommen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Clinical assessment for scoliosis w/radiographs as needed</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobmssmolgenTA"><div id="mss.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Marinesco-Sjogren Syndrome: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_mss.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_mss.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_mss.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_mss.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_mss.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_mss.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_mss.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
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<a href="/gene/64374" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
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<i>SIL1</i>
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</a>
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</td><td headers="hd_b_mss.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=64374" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">5q31<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_b_mss.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.uniprot.org/uniprot/Q9H173" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Nucleotide exchange factor SIL1</a>
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</td><td headers="hd_b_mss.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.lovd.nl/SIL1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SIL1 @ LOVD</a>
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</td><td headers="hd_b_mss.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SIL1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SIL1</a>
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</td><td headers="hd_b_mss.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=SIL1[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SIL1</a>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="mss.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
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<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
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chromosome locus from
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<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
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protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
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For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
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<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmssmolgenTB"><div id="mss.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Marinesco-Sjogren Syndrome (<a href="/omim/248800,608005" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/248800" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">248800</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">MARINESCO-SJOGREN SYNDROME; MSS</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/608005" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">608005</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SIL1 NUCLEOTIDE EXCHANGE FACTOR; SIL1</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobmssTsil1pathogenicvariantsreference"><div id="mss.T.sil1_pathogenic_variants_reference" class="table"><h3><span class="label">Table 7. </span></h3><div class="caption"><p><i>SIL1</i> Pathogenic Variants Referenced in This <i>GeneReview</i></p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1192/table/mss.T.sil1_pathogenic_variants_reference/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mss.T.sil1_pathogenic_variants_reference_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment [Reference]</th></tr></thead><tbody><tr><td headers="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_022464.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_022464<wbr style="display:inline-block"></wbr>​.5</a>
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<br />
|
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_071909.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_071909<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.506_509dupAAGA</td><td headers="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp170GlufsTer4</td><td headers="hd_h_mss.T.sil1_pathogenic_variants_reference_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder pathogenic variant in Finnish population [<a class="bibr" href="#mss.REF.anttonen.2005.1309" rid="mss.REF.anttonen.2005.1309">Anttonen et al 2005</a>]</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the author. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>​.hgvs.org</a>). See <a href="/books/n/gene/app3/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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