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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Bachmann-Bupp Syndrome - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_title" content="Bachmann-Bupp Syndrome">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2022/08/25">
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<meta name="citation_author" content="Caleb Bupp">
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<meta name="citation_author" content="Julianne Michael">
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<meta name="citation_author" content="Elizabeth VanSickle">
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<meta name="citation_author" content="Surender Rajasekaran">
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<meta name="citation_author" content="André Stephan Bachmann">
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<meta name="citation_keywords" content="ODC1-Related Neurodevelopmental Disorder">
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<meta name="citation_keywords" content="ODC1-Related Neurodevelopmental Disorder">
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<meta name="citation_keywords" content="Ornithine decarboxylase">
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<meta name="citation_keywords" content="ODC1">
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<meta name="citation_keywords" content="Bachmann-Bupp Syndrome">
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<meta name="DC.Title" content="Bachmann-Bupp Syndrome">
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<meta name="DC.Publisher" content="University of Washington, Seattle">
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<meta name="DC.Contributor" content="Caleb Bupp">
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<meta name="DC.Contributor" content="Julianne Michael">
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<meta name="DC.Contributor" content="Elizabeth VanSickle">
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<meta name="DC.Contributor" content="Surender Rajasekaran">
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<meta name="DC.Contributor" content="André Stephan Bachmann">
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<meta name="description" content="Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss.">
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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="_NBK583220_"><span class="title" itemprop="name">Bachmann-Bupp Syndrome</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: <i>ODC1</i>-Related Neurodevelopmental Disorder</div><p class="contribs">Bupp C, Michael J, VanSickle E, et al.</p><p class="fm-aai"><a href="#_NBK583220_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="bachmann-bupp.Summary" itemprop="description"><h2 id="_bachmann-bupp_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The finding of abnormal polyamine pathway metabolites (including increased N-acetylputrescine) on metabolomic profiling is suggestive of a diagnosis of BABS. The diagnosis is established in a proband with suggestive findings and a heterozygous pathogenic variant in <i>ODC1</i> identified by molecular genetic testing. Heterozygous pathogenic variants in <i>ODC1</i> that cause BABS are typically gain-of-function variants.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations</i>: Feeding therapy with a low threshold for a clinical feeding evaluation and/or gastrostomy tube placement; nutritional intervention for those with obesity; stool softeners, prokinetics, osmotic agents or laxatives for constipation; standard treatment for epilepsy, developmental delay / intellectual disability, refractive error, strabismus, hearing loss, follicular cysts, and congenital heart defects.</p><p><i>Surveillance</i>: Measurement of growth parameters, evaluation of nutritional status and safety of oral intake, monitoring for signs and symptoms of constipation, assessment of mobility and self-help skills, monitoring of developmental progress and educational needs, and assessment for new manifestations (seizures, changes in tone) at each visit. Complete skin evaluation for follicular cysts at least annually. Behavioral assessment for signs of autism spectrum disorder, attention, and aggressive or self-injurious behaviors annually. Ophthalmology and audiology evaluations annually or as clinically indicated.</p><p><i>Therapies under investigation</i>: An experimental targeted treatment with difluoromethylornithine (DFMO) is being explored on a compassionate use basis; it is not currently an FDA-approved treatment for BABS.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>BABS is expressed in an autosomal dominant manner and typically caused by a <i>de novo</i>
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<i>ODC1</i> pathogenic variant. Therefore, the risk to other family members is presumed to be low. Once an <i>ODC1</i> pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic testing are possible.</p></div></div><div id="bachmann-bupp.Diagnosis"><h2 id="_bachmann-bupp_Diagnosis_">Diagnosis</h2><p>No consensus clinical diagnostic criteria for Bachmann-Bupp syndrome (BABS) have been published.</p><div id="bachmann-bupp.Suggestive_Findings"><h3>Suggestive Findings</h3><p>BABS <b>should be considered</b> in individuals with the following clinical, suggestive laboratory, and imaging findings.</p><p>
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<b>Clinical findings</b>
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</p><ul><li class="half_rhythm"><div>Prenatal history of polyhydramnios</div></li><li class="half_rhythm"><div>An unusual pattern of noncongenital alopecia due to sudden-onset hair loss shortly after birth with congenitally absent or sparse eyebrows and eyelashes</div></li><li class="half_rhythm"><div>Developmental delay, typically in the moderate to severe range</div></li><li class="half_rhythm"><div>Hypotonia</div></li><li class="half_rhythm"><div>Macrocephaly, defined as OFC of >97<sup>th</sup> percentile for age and sex</div></li><li class="half_rhythm"><div>Macrosomia (defined as weight and length >95<sup>th</sup> percentile for age and sex) in early infancy</div></li><li class="half_rhythm"><div>Recurrent follicular cysts</div></li></ul><p><b>Suggestive laboratory findings.</b> Metabolomic profile showing abnormal polyamine pathway metabolites, including increased N-acetylputrescine</p><p>
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<b>Brain MRI findings</b>
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</p><ul><li class="half_rhythm"><div>Nonspecific white matter hyperintensities</div></li><li class="half_rhythm"><div>Cystic lesions, primarily in the periventricular region but occasionally in other areas, potentially associated with in utero intraventricular hemorrhage</div></li></ul></div><div id="bachmann-bupp.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of BABS <b>is established</b> in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in <i>ODC1</i> identified by molecular genetic testing (see <a href="/books/NBK583220/table/bachmann-bupp.T.molecular_genetic_testin/?report=objectonly" target="object" rid-ob="figobbachmannbuppTmoleculargenetictestin">Table 1</a> and <a href="#bachmann-bupp.Molecular_Genetics">Molecular Genetics</a>).</p><p>NOTE: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bibr" href="#bachmann-bupp.REF.richards.2015.405" rid="bachmann-bupp.REF.richards.2015.405">Richards et al 2015</a>]. Reference to pathogenic variants in this section is understood to include any likely pathogenic variants. (2) Identification of a heterozygous <i>ODC1</i> variant of uncertain significance does not establish or rule out the diagnosis of this disorder. (3) Heterozygous pathogenic variants in <i>ODC1</i> that cause BABS are typically gain-of-function variants (see <a href="#bachmann-bupp.Molecular_Genetics">Molecular Genetics</a>).</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) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in <a href="#bachmann-bupp.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#bachmann-bupp.Option_1">Option 1</a>), whereas those in whom the diagnosis of BABS has not been considered are more likely to be diagnosed using genomic testing (see <a href="#bachmann-bupp.Option_2">Option 2</a>).</p><div id="bachmann-bupp.Option_1"><h4>Option 1</h4><p>When the phenotypic and supportive laboratory findings suggest the diagnosis of BABS, 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>ODC1</i> is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Note: Because the mechanism of disease causation is gain of function, gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications is typically not required.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>An intellectual disability multigene panel</b> that includes <i>ODC1</i> and other genes of interest (see <a href="#bachmann-bupp.Differential_Diagnosis">Differential Diagnosis</a>) may be considered. 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. Because BABS is a rare condition, this gene may not be represented on a multigene panel. (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="bachmann-bupp.Option_2"><h4>Option 2</h4><p>When the phenotype is indistinguishable from many other inherited disorders characterized by developmental delay and growth abnormalities, <b>comprehensive genomic testing</b>, which does not require the clinician to determine which gene is likely involved, may be considered. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible.</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="figbachmannbuppTmoleculargenetictestin"><a href="/books/NBK583220/table/bachmann-bupp.T.molecular_genetic_testin/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTmoleculargenetictestin"><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="bachmann-bupp.T.molecular_genetic_testin"><a href="/books/NBK583220/table/bachmann-bupp.T.molecular_genetic_testin/?report=objectonly" target="object" rid-ob="figobbachmannbuppTmoleculargenetictestin">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in Bachmann-Bupp Syndrome </p></div></div></div></div></div><div id="bachmann-bupp.Clinical_Characteristics"><h2 id="_bachmann-bupp_Clinical_Characteristics_">Clinical Characteristics</h2><div id="bachmann-bupp.Clinical_Description"><h3>Clinical Description</h3><p>To date, nine individuals from nine families have been reported with a pathogenic variant in <i>ODC1</i> [<a class="bibr" href="#bachmann-bupp.REF.bupp.2018.2548" rid="bachmann-bupp.REF.bupp.2018.2548">Bupp et al 2018</a>, <a class="bibr" href="#bachmann-bupp.REF.rodan.2018.2554" rid="bachmann-bupp.REF.rodan.2018.2554">Rodan et al 2018</a>, <a class="bibr" href="#bachmann-bupp.REF.rajasekaran.2021.e67097" rid="bachmann-bupp.REF.rajasekaran.2021.e67097">Rajasekaran et al 2021</a>, <a class="bibr" href="#bachmann-bupp.REF.vansickle.2021.3485" rid="bachmann-bupp.REF.vansickle.2021.3485">VanSickle et al 2021</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="figbachmannbuppTbachmannbuppsyndromefr"><a href="/books/NBK583220/table/bachmann-bupp.T.bachmannbupp_syndrome_fr/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTbachmannbuppsyndromefr"><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="bachmann-bupp.T.bachmannbupp_syndrome_fr"><a href="/books/NBK583220/table/bachmann-bupp.T.bachmannbupp_syndrome_fr/?report=objectonly" target="object" rid-ob="figobbachmannbuppTbachmannbuppsyndromefr">Table 2. </a></h4><p class="float-caption no_bottom_margin">Bachmann-Bupp Syndrome: Frequency of Select Features </p></div></div><p><b>Alopecia</b> appears to be the most distinctive feature of BABS, but it does have some variability.</p><ul><li class="half_rhythm"><div>Hair is typically present at birth but is sometimes sparse and sometimes has atypical color (darker or lighter than anticipated).</div></li><li class="half_rhythm"><div>Loss of hair, if present, begins in the first few weeks of life with hair falling out in large clumps.</div></li><li class="half_rhythm"><div>Absent or sparse eyebrows and eyelashes are typically congenital.</div></li><li class="half_rhythm"><div>Some affected individuals undergo regrowth of scalp hair that usually remains sparse, although one affected individual had full, thick hair with no reported loss of hair postnatally but absent eyebrows and eyelashes.</div></li></ul><p><b>Nonspecific dysmorphic features.</b> Dysmorphic features have been identified in most affected individuals, but not with any discernible pattern or consistency.</p><p><b>Developmental delay / intellectual disability.</b> Developmental delay is evident early in life with both motor and speech delays. Walking was achieved between age 17 months and four years, although two affected individuals still had not walked when reported at ages three and five years. First words were said between ages three and six years; three affected individuals were nonverbal when reported at ages ten months, 32 months, and 16 years.</p><p><b>Hypotonia</b> is uniform and likely contributes to motor developmental delay.</p><p><b>Behavior.</b> Attention-deficit/hyperactivity disorder (ADHD), autism, and aggression have all been reported in five of the nine published individuals.</p><ul><li class="half_rhythm"><div>Behavioral concerns evolved in one affected individual treated with difluoromethylornithine (DFMO) (see <a href="#bachmann-bupp.Therapies_Under_Investigat">Therapies Under Investigation</a>), resulting in a diagnosis of autism.</div></li><li class="half_rhythm"><div>It is unclear whether DFMO treatment accelerated the development of autistic symptoms that would have developed in any case (although more slowly) without treatment, or whether the treatment itself affected brain function through the alteration of polyamine levels.</div></li></ul><p><b>Growth.</b> Larger head circumference for age and sex is often seen. One affected individual with a normal head circumference had sagittal craniosynostosis, which has not been seen in any other reported individuals.</p><p>Macrosomia at birth has been reported; in four of five affected individuals measured, length was >95% percentile, and in two of five weight was >95% percentile. However, growth parameters tend to normalize with age: at later childhood examination, only two of eight had height >95% percentile and none had weight >95% percentile.</p><p><b>Gastrointestinal and feeding.</b> Ability to feed varies with developmental level, with some affected individuals requiring gastrostomy tube. Others can take food by mouth. Constipation has been seen and may be related to hypotonia.</p><p><b>Skin findings</b> including keratosis pilaris, recurrent follicular cysts (particularly on the back, axilla, and posterior of head), and dry skin have been observed in childhood. Cysts were noted in the first few years of life and resolved with DFMO treatment (see <a href="#bachmann-bupp.Therapies_Under_Investigat">Therapies Under Investigation</a>).</p><p><b>Seizures</b> are seen in one individual, at age 23 years the oldest known with BABS. His seizures emerged at age 14 years, and multiple seizure types have been observed including atypical absence, atonic, and generalized tonic-clonic. Treatment has been challenging as no controlling medication has been identified [<a class="bibr" href="#bachmann-bupp.REF.vansickle.2021.3485" rid="bachmann-bupp.REF.vansickle.2021.3485">VanSickle et al 2021</a>].</p><p><b>Brain MRI findings.</b> Abnormalities identified on brain MRI vary quite broadly without a unifying pattern, although cystic lesions have been reported, and nonspecific white matter changes (loss, hyperintensity, signal abnormality) have been observed in six of nine affected individuals.</p><p><b>Other.</b> Because this is a newly recognized condition, it is unclear if the following findings are associated with BABS or represent rare co-occurrences, as the findings have been found in a small number of affected individuals.</p><ul><li class="half_rhythm"><div><b>Hearing loss.</b> One individual had unilateral congenital sensorineural hearing loss. Three individuals have required myringotomy.</div></li><li class="half_rhythm"><div><b>Congenital heart disease.</b> Mild pulmonary stenosis has been reported in one affected individual and ventricular septal defect (self-resolved) was reported in another.</div></li><li class="half_rhythm"><div><b>Nail anomalies.</b> Two affected individuals had brittle nails and another had hypoplastic toenails.</div></li><li class="half_rhythm"><div><b>Ophthalmologic findings.</b> One reported individual had esotropia, pseudostrabismus, and bilateral myopic astigmatism.</div></li></ul><p><b>Prognosis.</b> The availability of experimental targeted treatment options (see <a href="/books/NBK583220/table/bachmann-bupp.T.experimental_targeted_tr/?report=objectonly" target="object" rid-ob="figobbachmannbuppTexperimentaltargetedtr">Table 7</a>) may change the natural history of this condition. It is unclear if diagnosis prior to symptom onset, coupled with targeted therapies, will decrease the morbidity and mortality of this condition in the future.</p></div><div id="bachmann-bupp.GenotypePhenotype_Correlat"><h3>Genotype-Phenotype Correlations</h3><p>Gain-of-function variants located in the C terminus are associated with BABS. For example, pathogenic variants resulting in a premature termination codon within the last exon, escaping nonsense-mediated decay and causing a gain-of-function terminus, are associated with BABS.</p><p>Loss-of-function variants may be enriched with neurologic phenotypes (see <a href="#bachmann-bupp.Genetically_Related_Alleli">Genetically Related Disorders</a>).</p></div><div id="bachmann-bupp.Nomenclature"><h3>Nomenclature</h3><p>Bachmann-Bupp syndrome may also be referred to as <i>ODC1</i>-related neurodevelopmental disorder based on the dyadic naming approach proposed by <a class="bibr" href="#bachmann-bupp.REF.biesecker.2021.8" rid="bachmann-bupp.REF.biesecker.2021.8">Biesecker et al [2021]</a> to delineate mendelian genetic disorders.</p></div><div id="bachmann-bupp.Prevalence"><h3>Prevalence</h3><p>The prevalence of Bachmann-Bupp syndrome is unknown. Nine affected individuals have been reported in the literature to date. Three additional affected individuals are known to these authors but have not been reported in the medical literature.</p></div></div><div id="bachmann-bupp.Genetically_Related_Alleli"><h2 id="_bachmann-bupp_Genetically_Related_Alleli_">Genetically Related (Allelic) Disorders</h2><p>It is unclear whether loss-of-function variants in <i>ODC1</i> lead to a distinct phenotype, although current evidence suggests that loss-of-function variants are unlikely to be deleterious. One missense variant was enriched in a population of individuals with neurologic conditions (0.68% of such individuals) [<a class="bibr" href="#bachmann-bupp.REF.prokop.2021.470" rid="bachmann-bupp.REF.prokop.2021.470">Prokop et al 2021</a>].</p><p><b>Sporadic tumors</b> (including colorectal, gastric, skin, breast, prostate cancer and neuroblastoma) occurring as single tumors frequently harbor somatic pathogenic variants in <i>ODC1</i> that are <b>not</b> present in the germline. In these circumstances predisposition to these tumors is not heritable. For more information, see <a href="#bachmann-bupp.Cancer_and_Benign_Tumors">Cancer and Benign Tumors</a>.</p></div><div id="bachmann-bupp.Differential_Diagnosis"><h2 id="_bachmann-bupp_Differential_Diagnosis_">Differential Diagnosis</h2><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figbachmannbuppTselectedgeneticdisorde"><a href="/books/NBK583220/table/bachmann-bupp.T.selected_genetic_disorde/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTselectedgeneticdisorde"><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="bachmann-bupp.T.selected_genetic_disorde"><a href="/books/NBK583220/table/bachmann-bupp.T.selected_genetic_disorde/?report=objectonly" target="object" rid-ob="figobbachmannbuppTselectedgeneticdisorde">Table 3. </a></h4><p class="float-caption no_bottom_margin">Selected Genetic Disorders in the Differential Diagnosis of Bachmann-Bupp Syndrome </p></div></div></div><div id="bachmann-bupp.Management"><h2 id="_bachmann-bupp_Management_">Management</h2><p>No clinical practice guidelines for Bachmann-Bupp syndrome (BABS) have been published.</p><div id="bachmann-bupp.Evaluations_Following_Init"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with BABS, the evaluations summarized in <a href="/books/NBK583220/table/bachmann-bupp.T.recommended_evaluations/?report=objectonly" target="object" rid-ob="figobbachmannbuppTrecommendedevaluations">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="figbachmannbuppTrecommendedevaluations"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_evaluations/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTrecommendedevaluations"><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="bachmann-bupp.T.recommended_evaluations"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_evaluations/?report=objectonly" target="object" rid-ob="figobbachmannbuppTrecommendedevaluations">Table 4. </a></h4><p class="float-caption no_bottom_margin">Recommended Evaluations Following Initial Diagnosis in Individuals with Bachmann-Bupp Syndrome </p></div></div></div><div id="bachmann-bupp.Treatment_of_Manifestation"><h3>Treatment of Manifestations</h3><p>An experimental targeted treatment for BABS is being investigated (see <a href="#bachmann-bupp.Therapies_Under_Investigat">Therapies Under Investigation</a>) but is not currently FDA approved for use in this disorder.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figbachmannbuppTsupportivetreatmentof"><a href="/books/NBK583220/table/bachmann-bupp.T.supportive_treatment_of/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTsupportivetreatmentof"><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="bachmann-bupp.T.supportive_treatment_of"><a href="/books/NBK583220/table/bachmann-bupp.T.supportive_treatment_of/?report=objectonly" target="object" rid-ob="figobbachmannbuppTsupportivetreatmentof">Table 5. </a></h4><p class="float-caption no_bottom_margin">Supportive Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome </p></div></div><div id="bachmann-bupp.Developmental_Delay__Intel"><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>Individualized education plan (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 and hearing 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="bachmann-bupp.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></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 promote optimal speech and language development.</p></div><div id="bachmann-bupp.SocialBehavioral_Concerns"><h4>Social/Behavioral Concerns</h4><p>Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst.</p><p>Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder (ADHD), when necessary.</p><p>Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.</p></div></div><div id="bachmann-bupp.Surveillance"><h3>Surveillance</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figbachmannbuppTrecommendedsurveillance"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_surveillance/?report=objectonly" target="object" title="Table 6. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTrecommendedsurveillance"><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="bachmann-bupp.T.recommended_surveillance"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_surveillance/?report=objectonly" target="object" rid-ob="figobbachmannbuppTrecommendedsurveillance">Table 6. </a></h4><p class="float-caption no_bottom_margin">Recommended Surveillance for Individuals with Bachmann-Bupp Syndrome </p></div></div></div><div id="bachmann-bupp.Evaluation_of_Relatives_at"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#bachmann-bupp.Genetic_Counseling">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="bachmann-bupp.Therapies_Under_Investigat"><h3>Therapies Under Investigation</h3><p><b>Difluoromethylornithine (DFMO).</b> A compassionate-use protocol investigating the use of this drug in the targeted treatment of individuals with BABS is being used through investigational new drug approval by FDA. <a href="/books/NBK583220/table/bachmann-bupp.T.experimental_targeted_tr/?report=objectonly" target="object" rid-ob="figobbachmannbuppTexperimentaltargetedtr">Table 7</a> summarizes the proposed protocol.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figbachmannbuppTexperimentaltargetedtr"><a href="/books/NBK583220/table/bachmann-bupp.T.experimental_targeted_tr/?report=objectonly" target="object" title="Table 7. " class="img_link icnblk_img" rid-ob="figobbachmannbuppTexperimentaltargetedtr"><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="bachmann-bupp.T.experimental_targeted_tr"><a href="/books/NBK583220/table/bachmann-bupp.T.experimental_targeted_tr/?report=objectonly" target="object" rid-ob="figobbachmannbuppTexperimentaltargetedtr">Table 7. </a></h4><p class="float-caption no_bottom_margin">Experimental Targeted Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome </p></div></div><p><b>Other ODC inhibitors and DFMO analogs</b> with pharmacokinetic profiles superior to DFMO are under investigation. Also, various nature-derived molecules, including allicin and curcumin, are being studied. Finally, polyamine-restricted diets (<a href="http://www.nutrialys.fr" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Nutrialys</a>) that could be of use in lowering the dietary intake of polyamines are being developed. Special tables exist with precise quantities of each polyamine in various foods and drinks, allowing the design of a tailored putrescine-low diet.</p><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 access to 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="bachmann-bupp.Genetic_Counseling"><h2 id="_bachmann-bupp_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="bachmann-bupp.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Bachmann-Bupp syndrome (BABS) is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant.</p></div><div id="bachmann-bupp.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>All probands reported to date with BABS whose parents have also undergone molecular genetic testing have the disorder as the result of a <i>de novo</i>
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<i>ODC1</i> pathogenic variant.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling.</div></li><li class="half_rhythm"><div>If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div>The proband has a <i>de novo</i> pathogenic variant.</div></li><li class="half_rhythm"><div>The proband inherited a pathogenic variant from a parent with germline (or somatic and germline) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only.</div></li></ul></li></ul><p><b>Sibs of a proband.</b> The risk to the sibs of the proband depends on the genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If the <i>ODC1</i> pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the theoretic possibility of parental germline mosaicism [<a class="bibr" href="#bachmann-bupp.REF.rahbari.2016.126" rid="bachmann-bupp.REF.rahbari.2016.126">Rahbari et al 2016</a>].</div></li><li class="half_rhythm"><div>If a parent of the proband is known to have the <i>ODC1</i> pathogenic variant identified in the proband, the risk to the sibs of inheriting the variant is 50%.</div></li></ul><p>
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<b>Offspring of a proband</b>
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</p><ul><li class="half_rhythm"><div>Each child of an individual with BABS has a 50% chance of inheriting the <i>ODC1</i> pathogenic variant.</div></li><li class="half_rhythm"><div>To date, individuals with BABS are not known to reproduce; however, many are not yet of reproductive age.</div></li></ul><p><b>Other family members. </b>Given that all probands with BABS reported to date have the disorder as the result of a <i>de novo</i>
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<i>ODC1</i> pathogenic variant, the risk to other family members is presumed to be low.</p></div><div id="bachmann-bupp.Related_Genetic_Counseling"><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 parents of affected individuals.</div></li></ul></div><div id="bachmann-bupp.Prenatal_Testing_and_Preim"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Risk to future pregnancies is presumed to be low as the proband most likely has a <i>de novo ODC1</i> pathogenic variant. There is, however, a recurrence risk (~1%) to sibs based on the theoretic possibility of parental germline mosaicism [<a class="bibr" href="#bachmann-bupp.REF.rahbari.2016.126" rid="bachmann-bupp.REF.rahbari.2016.126">Rahbari et al 2016</a>]. Given this risk, prenatal and preimplantation genetic testing may be considered.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="bachmann-bupp.Resources"><h2 id="_bachmann-bupp_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>American Association on Intellectual and Developmental Disabilities (AAIDD)</b>
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</div><div><b>Phone:</b> 202-387-1968</div><div>
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<a href="https://www.aaidd.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">aaidd.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>MedlinePlus</b>
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</div><div>
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<a href="http://www.nlm.nih.gov/medlineplus/ency/article/001523.htm" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Intellectual Disability</a>
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</div></li></ul>
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<p>See <a href="#bachmann-bupp.Chapter_Notes">Chapter Notes</a> for information about the Authors' clinical research program.</p></div><div id="bachmann-bupp.Molecular_Genetics"><h2 id="_bachmann-bupp_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="figbachmannbuppmolgenTA"><a href="/books/NBK583220/table/bachmann-bupp.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobbachmannbuppmolgenTA"><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="bachmann-bupp.molgen.TA"><a href="/books/NBK583220/table/bachmann-bupp.molgen.TA/?report=objectonly" target="object" rid-ob="figobbachmannbuppmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">Bachmann-Bupp Syndrome: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figbachmannbuppmolgenTB"><a href="/books/NBK583220/table/bachmann-bupp.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobbachmannbuppmolgenTB"><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="bachmann-bupp.molgen.TB"><a href="/books/NBK583220/table/bachmann-bupp.molgen.TB/?report=objectonly" target="object" rid-ob="figobbachmannbuppmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for Bachmann-Bupp Syndrome (View All in OMIM) </p></div></div><div id="bachmann-bupp.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><div id="bachmann-bupp.F1" class="figure bk_fig"><div class="graphic"><img src="/books/NBK583220/bin/bachmann-bupp-Image001.jpg" alt="Figure 1. " /></div><h3><span class="label">Figure 1. </span></h3><div class="caption"><p>The polyamine metabolic pathway and associated genetic disorders</p><p>ODC and polyamines are intrinsically involved in the regulation of embryogenesis, organogenesis, and tumorigenesis. This occurs through tight regulation of putrescine, spermidine, and spermine, all of which control cell division and proliferation. Spermidine is substrate to eIF5A and essential for its hypusination (activation) and therefore directly affects eIF5A-mediated protein translation events. Many polyamine pathway-linked genes including <i>ODC1</i>, <i>SMS</i>, and <i>DHPS</i> and their gene products (green circles) have recently been identified to cause syndromes with a common finding of global developmental delays in childhood. Other polyamine-associated genes such as <i>DOHH</i>, <i>AMD1</i>, <i>eIF5A</i>, <i>MAT1A/B</i>, <i>MYC</i>, or <i>MYCN</i> may also be involved in similar genetic disorders. Collectively, they represent a new condition, which the authors refer to as polyaminopathy spectrum disorder (PSD).</p><p>Figure and legend republished from <a class="bibr" href="#bachmann-bupp.REF.schultz.2019.2047" rid="bachmann-bupp.REF.schultz.2019.2047">Schultz et al [2019]</a></p></div></div><p><i>ODC1</i> codes for ornithine decarboxylase (ODC), a rate-limiting enzyme in the polyamine pathway, converting ornithine into the polyamine metabolite putrescine (see <a class="figpopup" href="/books/NBK583220/figure/bachmann-bupp.F1/?report=objectonly" target="object" rid-figpopup="figbachmannbuppF1" rid-ob="figobbachmannbuppF1">Figure 1</a>). Polyamines (putrescine, spermidine, spermine) are polycationic molecules involved in many physiologic and cell development processes. The C terminus of ODC contains a 37-amino acid region (amino acids 425-461 using the <a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002539.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002539.3</a> transcript) which is functionally important as a destabilization region. In vitro deletions in this region cause a functional ODC protein that is more stable due to reduced proteasomal degradation, resulting in elevated ODC protein and polyamine levels, mainly putrescine and N-acetyl-putrescine.</p><p>When intracellular putrescine and other polyamine levels are elevated, these metabolites are acetylated. Acetylated polyamines are shuttled out of the cell in an attempt to regain homeostasis, resulting in elevated plasma N-acetylputrescine. In cell experiments using high-performance liquid chromatography (HPLC), increased putrescine is observed because HPLC is not able to separate putrescine from N-acetylputrescine; however, mass spectrometry does have this capability.</p><p>A transgenic mouse model created in 1995 in which a C-terminally deleted ODC (p.Pro427Ter) protein was overexpressed showed higher ODC enzyme levels and increased polyamine metabolites [<a class="bibr" href="#bachmann-bupp.REF.megosh.1995.4205" rid="bachmann-bupp.REF.megosh.1995.4205">Megosh et al 1995</a>]. Phenotypically these mice demonstrated skin, nail, and hair follicle abnormalities after birth similar to those seen in humans [<a class="bibr" href="#bachmann-bupp.REF.soler.1996.1108" rid="bachmann-bupp.REF.soler.1996.1108">Soler et al 1996</a>]. Treatment of the mice with DFMO prevented hair loss and allowed partial regrowth of hair [<a class="bibr" href="#bachmann-bupp.REF.soler.1996.1108" rid="bachmann-bupp.REF.soler.1996.1108">Soler et al 1996</a>].</p><p><b>Mechanism of disease causation.</b> Gain of function. All pathogenic variants reported to date are in exon 12 (amino acids 414-461 using the <a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002539.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002539.3</a> transcript) or at the intronic splice site before exon 12, resulting in deletion of the C-terminal region.</p></div><div id="bachmann-bupp.Cancer_and_Benign_Tumors"><h3>Cancer and Benign Tumors</h3><p>Due to its role in regulating cell growth and proliferation, the polyamine pathway and ODC are known to be involved in neoplastic cell growth, specifically in neuroblastoma and in breast, colon, lung, prostate, and skin cancers [<a class="bibr" href="#bachmann-bupp.REF.nowotarski.2013.e3" rid="bachmann-bupp.REF.nowotarski.2013.e3">Nowotarski et al 2013</a>]. ODC is a transcriptional target of the <i>MYC</i> oncogene, which mediates cell apoptosis, differentiation, metabolism, and proliferation. Therefore, difluoromethylornithine (DFMO) has been studied as a potential treatment for or preventative of neuroblastoma, glioblastoma, and prostate, skin, breast, and colon cancers. While oral DFMO has not yet been FDA approved, it has been approved for other routes of administration, specifically via intravenous administration for trypanosomiasis and topical administration for hirsutism. Oral DFMO has been studied in Phase I/II clinical trials in individuals with neuroblastoma and was found to be safe and well tolerated in the study population through two years of maintenance therapy [<a class="bibr" href="#bachmann-bupp.REF.saulnier_sholler.2015.e0127246" rid="bachmann-bupp.REF.saulnier_sholler.2015.e0127246">Saulnier Sholler et al 2015</a>, <a class="bibr" href="#bachmann-bupp.REF.lewis.2020.3152" rid="bachmann-bupp.REF.lewis.2020.3152">Lewis et al 2020</a>].</p></div></div><div id="bachmann-bupp.Chapter_Notes"><h2 id="_bachmann-bupp_Chapter_Notes_">Chapter Notes</h2><div id="bachmann-bupp.Author_Notes"><h3>Author Notes</h3><p>The <a href="https://www.spectrumhealth.org/research-and-clinical-trials/icpd" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri"><b>Spectrum Health/Michigan State University International Center for Polyamine Disorders (ICPD)</b></a> is a collaborative translational and clinical research program operated under the auspices of Michigan State University and Spectrum Health West Michigan in Grand Rapids, Michigan. The ICPD launched in summer 2020 and includes a polyaminopathy patient biobank, a state-of-the-art translational research lab core, and a clinical genetics team at Spectrum Health West Michigan. The ICPD offers innovative ways to study polyaminopathies and associated disabilities and to develop strategies for treatment and prevention. This collaborative effort between Spectrum Health and Michigan State University brings world leading experts in the field from the bench and clinic together to study these rare genetic diseases.</p><p>
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<a href="https://www.grc.org/polyamines-conference/2019/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.grc.org/polyamines-conference/2019/</a>
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</p><p>
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<a href="https://cancer.msu.edu/faculty/bachmann-andre" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">cancer.msu.edu/faculty/bachmann-andre</a>
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</p><p>
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<a href="https://www.phd.msu.edu/index.php/research/faculty-staff/andre-s-bachmann" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.phd.msu.edu/index.php/research/faculty-staff/andre-s-bachmann</a>
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</p><p>Caleb Bupp, MD, FACMG<br />Division Chief, Medical Genetics and Genomics<br />Spectrum Health and Helen DeVos Children's Hospital<br />25 Michigan Street NE, Suite 2000<br />Grand Rapids, Michigan 49503<br />caleb.bupp@spectrumhealth.org</p><p>André S Bachmann, MS, PHD<br />Professor of Pediatrics and Associate Chair for Research<br />Department of Pediatrics and Human Development, College of Human Medicine<br />Michigan State University<br />400 Monroe Ave NW<br />Grand Rapids, Michigan 49503<br />bachma26@msu.edu.</p><p>Research interests: polyamines, ODC, DFMO, natural products drug discovery, proteasome inhibitors, pediatric cancer, neuroblastoma, medical genetics, Bachmann-Bupp syndrome, Synder-Robinson syndrome, preclinical & clinical trial studies</p></div><div id="bachmann-bupp.Acknowledgments"><h3>Acknowledgments</h3><p>The authors acknowledge the research support of the Spectrum Health Michigan State University Alliance Corporation for this work.</p><p>The authors would like to thank all individuals with BABS and their families for sharing their medical and personal stories. They are the true experts and based upon their knowledge we have been able to write this <i>GeneReviews</i> chapter.</p></div><div id="bachmann-bupp.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>25 August 2022 (ma) Review posted live</div></li><li class="half_rhythm"><div>7 January 2022 (cb) Original submission</div></li></ul></div></div><div id="bachmann-bupp.References"><h2 id="_bachmann-bupp_References_">References</h2><div id="bachmann-bupp.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.biesecker.2021.8">Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. <span><span class="ref-journal">Am J Hum Genet. </span>2021;<span class="ref-vol">108</span>:8–15.</span> [<a href="/pmc/articles/PMC7820621/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7820621</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33417889" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33417889</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.bupp.2018.2548">Bupp CP, Schultz CR, Uhl KL, Rajasekaran S, Bachmann AS. Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. <span><span class="ref-journal">Am J Med Genet A. </span>2018;<span class="ref-vol">176</span>:2548–53.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30239107" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30239107</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.lewis.2020.3152">Lewis EC, Kraveka JM, Ferguson W, Eslin D, Brown VI, Bergendahl G, Roberts W, Wada RK, Oesterheld J, Mitchell D, Foley J, Zage P, Rawwas J, Rich M, Lorenzi E, Broglio K, Berry D, Saulnier Sholler GL. A subset analysis of a phase II trial evaluating the use of DFMO as maintenance therapy for high-risk neuroblastoma. <span><span class="ref-journal">Int J Cancer. </span>2020;<span class="ref-vol">147</span>:3152–9.</span> [<a href="/pmc/articles/PMC7586843/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7586843</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32391579" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32391579</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.megosh.1995.4205">Megosh L, Gilmour SK, Rosson D, Soler AP, Blessing M, Sawicki JA, O'Brien TG. Increased frequency of spontaneous skin tumors in transgenic mice which overexpress ornithine decarboxylase. <span><span class="ref-journal">Cancer Research. </span>1995;<span class="ref-vol">55</span>:4205–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7671221" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7671221</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.nowotarski.2013.e3">Nowotarski SL, Woster PM, Casero RA Jr. Polyamines and cancer: implications for chemotherapy and chemoprevention. <span><span class="ref-journal">Expert Rev Mol Med. </span>2013;<span class="ref-vol">15</span>:e3. </span> [<a href="/pmc/articles/PMC4027058/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4027058</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23432971" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23432971</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.prokop.2021.470">Prokop JW, Bupp CP, Frisch A, Bilinovich SM, Campbell DB, Vogt D, Schultz CR, Uhl KL, VanSickle E, Rajasekaran S, Bachmann AS. Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development. <span><span class="ref-journal">Genes (Basel). </span>2021;<span class="ref-vol">12</span>:470.</span> [<a href="/pmc/articles/PMC8064465/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8064465</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33806076" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33806076</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.rahbari.2016.126">Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. <span><span class="ref-journal">Nat Genet. </span>2016;<span class="ref-vol">48</span>:126–33.</span> [<a href="/pmc/articles/PMC4731925/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4731925</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26656846" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26656846</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.rajasekaran.2021.e67097">Rajasekaran S, Bupp CP, Leimanis M, Shukla A, Russell C, Gleason E, VanSickle E, Edgerly Y, Wittman B, Prokop JW, Bachmann AS. Repurposing a pre-existing drug to treat a rare disease: Eflornithine used in a patient with ODC1 gain-of-function variant. <span><span class="ref-journal">eLife. </span>2021;<span class="ref-vol">10</span>:e67097. </span> [<a href="/pmc/articles/PMC8291972/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8291972</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34282722" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34282722</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.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, et al. 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. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<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="bachmann-bupp.REF.rodan.2018.2554">Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. <span><span class="ref-journal">Am J Med Genet A. </span>2018;<span class="ref-vol">176</span>:2554–60.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30475435" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30475435</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.saulnier_sholler.2015.e0127246">Saulnier Sholler GL, Gerner EW, Bergendahl G, MacArthur RB, VanderWerff A, Ashikaga T, Bond JP, Ferguson W, Roberts W, Wada RK, Eslin D, Kraveka JM, Kaplan J, Mitchell D, Parikh NS, Neville K, Sender L, Higgins T, Kawakita M, Hiramatsu K, Moriya SS, Bachmann AS. A Phase I trial of DFMO targeting polyamine addiction in patients with relapsed/refractory neuroblastoma. <span><span class="ref-journal">PLoS One. </span>2015;<span class="ref-vol">10</span>:e0127246. </span> [<a href="/pmc/articles/PMC4446210/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4446210</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26018967" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26018967</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.schultz.2019.2047">Schultz CR, Bupp CP, Rajasekaran S, Bachmann AS. Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation. <span><span class="ref-journal">Biochem J. </span>2019;<span class="ref-vol">476</span>:2047–57.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31249027" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31249027</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.soler.1996.1108">Soler AP, Gilliard G, Megosh LC, O'Brien TG. Modulation of murine hair follicle function by alterations in ornithine decarboxylase activity. <span><span class="ref-journal">J Invest Dermatol. </span>1996;<span class="ref-vol">106</span>:1108–13.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8618048" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8618048</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="bachmann-bupp.REF.vansickle.2021.3485">VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP. Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. <span><span class="ref-journal">Am J Med Genet A. </span>2021;<span class="ref-vol">185</span>:3485–93.</span> [<a href="/pmc/articles/PMC9292803/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9292803</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34477286" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34477286</span></a>]</div></p></li></ul></div></div><div style="display:none"><div style="display:none" id="figbachmannbuppF1"><img alt="Image bachmann-bupp-Image001" src-large="/books/NBK583220/bin/bachmann-bupp-Image001.jpg" /></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK583220_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Caleb Bupp</span>, MD, FACMG<div class="affiliation small">Spectrum Health<br />Grand Rapids, Michigan<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.htlaehmurtceps@ppub.belac" class="oemail">gro.htlaehmurtceps@ppub.belac</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Julianne Michael</span>, MS, LCGC<div class="affiliation small">Spectrum Health<br />Grand Rapids, Michigan<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.htlaehmurtceps@leahcim.ennailuj" class="oemail">gro.htlaehmurtceps@leahcim.ennailuj</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Elizabeth VanSickle</span>, MS<div class="affiliation small">Spectrum Health<br />Grand Rapids, Michigan<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.htlaehmurtceps@elkcisnav.htebazile" class="oemail">gro.htlaehmurtceps@elkcisnav.htebazile</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Surender Rajasekaran</span>, MD, MPH<div class="affiliation small">Spectrum Health<br />Grand Rapids, Michigan<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.htlaehmurtceps@narakesajar.rednerus" class="oemail">gro.htlaehmurtceps@narakesajar.rednerus</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">André Stephan Bachmann</span>, MS, PHD<div class="affiliation small">Michigan State University<br />East Lansing, Michigan<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.usm@62amhcab" class="oemail">ude.usm@62amhcab</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">August 25, 2022</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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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>Bupp C, Michael J, VanSickle E, et al. Bachmann-Bupp Syndrome. 2022 Aug 25. 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/spg17/?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/bgs/?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="figobbachmannbuppTmoleculargenetictestin"><div id="bachmann-bupp.T.molecular_genetic_testin" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.molecular_genetic_testin/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.molecular_genetic_testin_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.molecular_genetic_testin_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_bachmann-bupp.T.molecular_genetic_testin_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_bachmann-bupp.T.molecular_genetic_testin_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_bachmann-bupp.T.molecular_genetic_testin_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ODC1</i>
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</td><td headers="hd_h_bachmann-bupp.T.molecular_genetic_testin_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_bachmann-bupp.T.molecular_genetic_testin_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/9 (100%) <sup>4</sup></td></tr><tr><td headers="hd_h_bachmann-bupp.T.molecular_genetic_testin_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_bachmann-bupp.T.molecular_genetic_testin_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported <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="bachmann-bupp.TF.1.1"><p class="no_margin">See <a href="/books/NBK583220/?report=reader#bachmann-bupp.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="bachmann-bupp.TF.1.2"><p class="no_margin">See <a href="#bachmann-bupp.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="bachmann-bupp.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 small intragenic deletions/insertions and missense, nonsense, and splice site variants; 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="bachmann-bupp.TF.1.4"><p class="no_margin"><a class="bibr" href="#bachmann-bupp.REF.bupp.2018.2548" rid="bachmann-bupp.REF.bupp.2018.2548">Bupp et al [2018]</a>, <a class="bibr" href="#bachmann-bupp.REF.rodan.2018.2554" rid="bachmann-bupp.REF.rodan.2018.2554">Rodan et al [2018]</a>, <a class="bibr" href="#bachmann-bupp.REF.vansickle.2021.3485" rid="bachmann-bupp.REF.vansickle.2021.3485">VanSickle et al [2021]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="bachmann-bupp.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.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="bachmann-bupp.TF.1.6"><p class="no_margin">No data on detection rate of gene-targeted deletion/duplication analysis are available. As this condition is thought to be due to a gain of function, it is not anticipated that whole-exon or gene deletions or duplications will lead to this phenotype (see <a href="#bachmann-bupp.Molecular_Genetics">Molecular Genetics</a>).</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppTbachmannbuppsyndromefr"><div id="bachmann-bupp.T.bachmannbupp_syndrome_fr" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Bachmann-Bupp Syndrome: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.bachmannbupp_syndrome_fr/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.bachmannbupp_syndrome_fr_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons<br />w/Feature</th><th id="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_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_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Alopecia</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/9 (100%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nonspecific dysmorphic features</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/9 (100%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">No specific pattern identified</td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental delay <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8/8 (100%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypotonia <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8/8 (100%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Macrocephaly</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6/9 (66%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pregnancy notable for polyhydramnios</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5/9 (55.5%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Skin findings <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4/8 (50%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Keratosis pilaris and follicular cysts</td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Constipation <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3/8 (37.5%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Macrosomia</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2/5 (40%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measured in infancy; growth parameters tend to normalize w/age.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/8 (12.5%)</td><td headers="hd_h_bachmann-bupp.T.bachmannbupp_syndrome_fr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></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="bachmann-bupp.TF.2.1"><p class="no_margin">One reported case was of a late-term stillbirth; thus, some features pertaining to this person are unknown [<a class="bibr" href="#bachmann-bupp.REF.rodan.2018.2554" rid="bachmann-bupp.REF.rodan.2018.2554">Rodan et al 2018</a>].</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppTselectedgeneticdisorde"><div id="bachmann-bupp.T.selected_genetic_disorde" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Selected Genetic Disorders in the Differential Diagnosis of Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.selected_genetic_disorde/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.selected_genetic_disorde_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Features Observed in DiffDx Disorder & BABS</th><th id="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Features Distinguishing from BABS</th></tr></thead><tbody><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CHD3</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Snijders Blok-Campeau syndrome (SNIBCPS; OMIM <a href="https://omim.org/entry/618205" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618205</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DD, macrocephaly, hypotonia</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In SNIBCPS: ventriculomegaly, common dysmorphic features, & joint laxity</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>DCAF17</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Woodhouse-Sakati syndrome (OMIM <a href="https://omim.org/entry/241080" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">241080</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Alopecia totalis, dystonia</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypogonadism, diabetes mellitus</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>LSS</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>LSS</i>-related neurodevelopmental disorder (OMIM <a href="https://omim.org/entry/618840" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618840</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Alopecia, DD, epilepsy</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Alopecia is congenital in persons w/<i>LSS</i>-related neurodevelopmental disorder.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PAK1</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual developmental disorder with macrocephaly, seizures, & speech delay (IDDMSSD; OMIM <a href="https://omim.org/entry/618158" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618158</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DD, macrocephaly, seizures</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In IDDMSSD: ataxia & absence of consistent hair & skin abnormalities</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PTEN</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cowden syndrome (See <a href="/books/n/gene/phts/?report=reader"><i>PTEN </i>Hamartoma Tumor Syndrome</a>.)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DD, macrocephaly</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Facial trichilemmomas, acral keratoses, papillomatous papules, ↑ risk for breast, thyroid, & endometrial cancers</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1 hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2 hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3 hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4 hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" colspan="5" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;"><b>Ectodermal dysplasias</b> including the following:</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>EDA</i>
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<br />
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<i>EDAR</i>
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<br />
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<i>EDARADD</i>
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<br />
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<i>WNT10A</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic ectodermal dysplasia</a>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL, AD, AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypotrichosis: thin, lightly pigmented, slow-growing scalp hair</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_5" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ectodermal dysplasia is not typically assoc w/DD or hypotonia. Alopecia is congenital in most ectodermal dysplasia.</div></li><li class="half_rhythm"><div>BABS is not assoc w/dental issues. Only 1 person w/BABS was reported to have ↓ sweating.</div></li></ul>
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</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GJB6</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/ed2/?report=reader">Hidrotic ectodermal dysplasia 2</a>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Partial-to-complete alopecia</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>HOXC13</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ectodermal dysplasia 9, hair/nail type (OMIM <a href="https://omim.org/entry/614931" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614931</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Generalized congenital atrichia</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>KRT74</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ectodermal dysplasia 7, hair/nail type (OMIM <a href="https://omim.org/entry/614929" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614929</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Generalized hypotrichosis or atrichia</td></tr><tr><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>KRT85</i>
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</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ectodermal dysplasia 4, hair/nail type (OMIM <a href="https://omim.org/entry/602032" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602032</a>)</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_bachmann-bupp.T.selected_genetic_disorde_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sparse or absent scalp hair; absent eyebrows, eyelashes, pubic & axillary hair</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; BABS = Bachmann-Bupp syndrome; DD = developmental delay; DiffDx = differential diagnosis; MOI = mode of inheritance; XL = X-linked</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppTrecommendedevaluations"><div id="bachmann-bupp.T.recommended_evaluations" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_evaluations/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.recommended_evaluations_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_bachmann-bupp.T.recommended_evaluations_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_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Constitutional</b>
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</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of growth parameters</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To evaluate for overgrowth in infancy/childhood</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal/</b>
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<br />
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<b>Feeding</b>
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</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterology / nutrition / feeding team eval</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl eval for aspiration risk, nutritional status, & signs & symptoms of constipation</div></li><li class="half_rhythm"><div>May require use of special nipple &/or nasogastric tube in infancy</div></li><li class="half_rhythm"><div>Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.</div></li></ul>
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</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Development</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl motor, adaptive, cognitive, & speech/language eval</div></li><li class="half_rhythm"><div>Eval for early intervention / special education</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Psychiatric/</b>
|
|
<br />
|
|
<b>Behavioral</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuropsychiatric eval</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For persons age >12 mos: screening for behavior concerns incl ADHD, aggression &/or traits suggestive of ASD</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Neurologic</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic eval</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider EEG & brain MRI if seizures are a concern.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Eyes</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic eval</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for eye alignment & refractive error</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Ears/Hearing</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Audiology eval</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for presence & type of hearing loss</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Skin/Hair</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical exam for follicular cysts</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider referral to dermatologist</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Cardiovascular</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Auscultation for heart murmur</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider echocardiogram, as clinically indicated</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Genetic</b>
|
|
<br />
|
|
<b>counseling</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_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_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To inform patients & families re nature, MOI, & implications of BABS in order to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Family support</b>
|
|
<br />
|
|
<b>& resources</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_bachmann-bupp.T.recommended_evaluations_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess:
|
|
<ul><li class="half_rhythm"><div>Use of community or <a href="#bachmann-bupp.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>Need for social work involvement for parental support;</div></li><li class="half_rhythm"><div>Need for 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">ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; BABS = Bachmann-Bupp syndrome; EEG = electroencephalogram; MOI = mode of inheritance; MRI = magnetic resonance imaging</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="bachmann-bupp.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="figobbachmannbuppTsupportivetreatmentof"><div id="bachmann-bupp.T.supportive_treatment_of" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Supportive Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.supportive_treatment_of/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.supportive_treatment_of_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/<br />Concern</th><th id="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_bachmann-bupp.T.supportive_treatment_of_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_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Feeding</b>
|
|
<br />
|
|
<b>difficulties</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Feeding therapy</div></li><li class="half_rhythm"><div>Special nipple or nasogastric tube may be required.</div></li><li class="half_rhythm"><div>Gastrostomy tube placement may be considered for persistent feeding issues.</div></li></ul>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia</td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Obesity/</b>
|
|
<br />
|
|
<b>Overgrowth</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nutritional intervention</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider restricting caloric intake.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Constipation</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Stool softeners, prokinetics, osmotic agents, or laxatives as needed</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>DD/ID</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="#bachmann-bupp.Developmental_Delay__Intel">Developmental Delay / Intellectual Disability Management Issues</a>.</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incl social/behavioral concerns</td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Epilepsy</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standardized treatment w/ASM by experienced neurologist</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Many ASMs may be effective; none has been demonstrated effective specifically for BABS.</div></li><li class="half_rhythm"><div>In 1 person, epilepsy was refractory to multiple ASMs, ketogenic diet, & vagal nerve stimulators. <sup>1</sup></div></li><li class="half_rhythm"><div>Education of parents/caregivers <sup>2</sup></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Refractive error &/or<br />strabismus</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment(s) as recommended by ophthalmologist</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Hearing loss</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment per audiologist</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Follicular</b>
|
|
<br />
|
|
<b>cysts</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment per dermatologist</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May require surgical drainage</td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Congenital</b>
|
|
<br />
|
|
<b>heart defects</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment per cardiology</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Family/</b>
|
|
<br />
|
|
<b>Community</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ensure appropriate social work involvement to connect families w/local resources, respite, & support.</div></li><li class="half_rhythm"><div>Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.</div></li></ul>
|
|
</td><td headers="hd_h_bachmann-bupp.T.supportive_treatment_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ongoing assessment of need for palliative care involvement &/or home nursing</div></li><li class="half_rhythm"><div>Consider involvement in adaptive sports or Special Olympics.</div></li></ul>
|
|
</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">ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="bachmann-bupp.TF.5.1"><p class="no_margin">
|
|
<a class="bibr" href="#bachmann-bupp.REF.vansickle.2021.3485" rid="bachmann-bupp.REF.vansickle.2021.3485">VanSickle et al [2021]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="bachmann-bupp.TF.5.2"><p class="no_margin">Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see <a href="https://www.epilepsy.com/tools-resources/forms-resources#Epilepsy-Foundation-Toolbox" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epilepsy Foundation Toolbox</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppTrecommendedsurveillance"><div id="bachmann-bupp.T.recommended_surveillance" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.recommended_surveillance/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.recommended_surveillance_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_bachmann-bupp.T.recommended_surveillance_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_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Growth/Feeding</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Measurement of growth parameters</div></li><li class="half_rhythm"><div>Eval of nutritional status & safety of oral intake</div></li></ul>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_3" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Gastrointestinal</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor for constipation.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Musculoskeletal</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OT/PT assessment of mobility & self-help skills</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Development</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor developmental progress & educational needs.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Psychiatric/</b>
|
|
<br />
|
|
<b>Behavioral</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Behavioral assessment for signs of ASD, attention, & aggressive or self-injurious behavior</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Neurologic</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor those w/seizures as clinically indicated.</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_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_bachmann-bupp.T.recommended_surveillance_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Assess for new manifestations such as seizures & changes in tone.</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Eyes</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment by an ophthalmologist</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Annually or as clinically indicated</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Hearing</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment for signs & symptoms of hearing loss</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Skin/hair</b>
|
|
</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Complete skin eval for follicular cysts</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At least annually</td></tr><tr><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Miscellaneous/</b>
|
|
<br />
|
|
<b>Other</b>
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</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.</td><td headers="hd_h_bachmann-bupp.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</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">ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppTexperimentaltargetedtr"><div id="bachmann-bupp.T.experimental_targeted_tr" class="table"><h3><span class="label">Table 7. </span></h3><div class="caption"><p>Experimental Targeted Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.T.experimental_targeted_tr/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.T.experimental_targeted_tr_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Targeted Treatment</th><th id="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Dosage</th><th id="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Consideration</th></tr></thead><tbody><tr><td headers="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Difluoromethylornithine (DFMO) <sup>1</sup></td><td headers="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Escalating 500 mg/m<sup>2</sup>/dose orally BID for 3 mos to 750 mg/m<sup>2</sup>/dose orally for 3 mos</div></li><li class="half_rhythm"><div>1000 mg/m<sup>2</sup>/dose orally BID for maintenance</div></li></ul>
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</td><td headers="hd_h_bachmann-bupp.T.experimental_targeted_tr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><ul><li class="half_rhythm"><div>This dosing strategy was used for 3 patients w/BABS under FDA-approved Single Patient IND based on previous data from pediatric dosing for neuroblastoma treatment.</div></li><li class="half_rhythm"><div>Future treatment strategies for DFMO may be influenced by ongoing safety & efficacy data.</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">BID = twice a day; FDA = Food and Drug Administration; IND = investigational new drug</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="bachmann-bupp.TF.7.1"><p class="no_margin">Also called eflornithine</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobbachmannbuppmolgenTA"><div id="bachmann-bupp.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Bachmann-Bupp Syndrome: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK583220/table/bachmann-bupp.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_bachmann-bupp.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_bachmann-bupp.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="/gene/4953" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
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<i>ODC1</i>
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</a>
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</td><td headers="hd_b_bachmann-bupp.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=4953" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">2p25<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_b_bachmann-bupp.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/P11926" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Ornithine decarboxylase</a>
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</td><td headers="hd_b_bachmann-bupp.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://databases.lovd.nl/shared/genes/ODC1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ODC1 database</a>
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</td><td headers="hd_b_bachmann-bupp.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=ODC1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ODC1</a>
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</td><td headers="hd_b_bachmann-bupp.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=ODC1[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ODC1</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="bachmann-bupp.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="figobbachmannbuppmolgenTB"><div id="bachmann-bupp.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Bachmann-Bupp Syndrome (<a href="/omim/165640,619075" 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/NBK583220/table/bachmann-bupp.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__bachmann-bupp.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/165640" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">165640</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">ORNITHINE DECARBOXYLASE 1; ODC1</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/619075" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">619075</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">BACHMANN-BUPP SYNDROME; BABS</td></tr></tbody></table></div></div></article><article data-type="fig" id="figobbachmannbuppF1"><div id="bachmann-bupp.F1" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK583220/bin/bachmann-bupp-Image001.jpg" alt="Figure 1. " /></div><h3><span class="label">Figure 1. </span></h3><div class="caption"><p>The polyamine metabolic pathway and associated genetic disorders</p><p>ODC and polyamines are intrinsically involved in the regulation of embryogenesis, organogenesis, and tumorigenesis. This occurs through tight regulation of putrescine, spermidine, and spermine, all of which control cell division and proliferation. Spermidine is substrate to eIF5A and essential for its hypusination (activation) and therefore directly affects eIF5A-mediated protein translation events. Many polyamine pathway-linked genes including <i>ODC1</i>, <i>SMS</i>, and <i>DHPS</i> and their gene products (green circles) have recently been identified to cause syndromes with a common finding of global developmental delays in childhood. Other polyamine-associated genes such as <i>DOHH</i>, <i>AMD1</i>, <i>eIF5A</i>, <i>MAT1A/B</i>, <i>MYC</i>, or <i>MYCN</i> may also be involved in similar genetic disorders. Collectively, they represent a new condition, which the authors refer to as polyaminopathy spectrum disorder (PSD).</p><p>Figure and legend republished from <a class="bibr" href="#bachmann-bupp.REF.schultz.2019.2047" rid="bachmann-bupp.REF.schultz.2019.2047">Schultz et al [2019]</a></p></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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