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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="STRC-Related Autosomal Recessive Hearing Loss" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2023/12/14" /><meta name="citation_author" content="Shelby Redfield" /><meta name="citation_author" content="A Eliot Shearer" /><meta name="citation_pmid" content="38109326" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK598310/" /><meta name="citation_keywords" content="STRC-Related Sensorineural Hearing Loss" /><meta name="citation_keywords" content="STRC-Related Sensorineural Hearing Loss" /><meta name="citation_keywords" content="STRC-Related Nonsyndromic Sensorineural Hearing Loss" /><meta name="citation_keywords" content="STRC-Related Sensorineural Hearing Loss With Decreased Fertility in Males" /><meta name="citation_keywords" content="Cation channel sperm-associated protein 2" /><meta name="citation_keywords" content="Stereocilin" /><meta name="citation_keywords" content="CATSPER2" /><meta name="citation_keywords" content="STRC" /><meta name="citation_keywords" content="STRC-Related Autosomal Recessive Hearing Loss" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="STRC-Related Autosomal Recessive Hearing Loss" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Shelby Redfield" /><meta name="DC.Contributor" content="A Eliot Shearer" /><meta name="DC.Date" content="2023/12/14" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK598310/" /><meta name="description" content="STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss." /><meta name="og:title" content="STRC-Related Autosomal Recessive Hearing Loss" /><meta name="og:type" content="book" /><meta name="og:description" content="STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK598310/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/strc-hearing-loss/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK598310/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.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><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK598310_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK598310_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/higes/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/stxbp1-ee/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK598310_"><span class="title" itemprop="name"><i>STRC</i>-Related Autosomal Recessive Hearing Loss</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: <i>STRC</i>-Related Sensorineural Hearing Loss</div><p class="contrib-group"><span itemprop="author">Shelby Redfield</span>, MS, CGC and <span itemprop="author">A Eliot Shearer</span>, MD, PhD.</p><a data-jig="ncbitoggler" href="#__NBK598310_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK598310_ai__"><div class="contrib half_rhythm"><span itemprop="author">Shelby Redfield</span>, MS, CGC<div class="affiliation small">Department of Otolaryngology & Communication Enhancement<br />Boston Children's Hospital<br />Boston, Massachusetts<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.dravrah.snerdlihc@dleifder.yblehs" class="oemail">ude.dravrah.snerdlihc@dleifder.yblehs</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">A Eliot Shearer</span>, MD, PhD<div class="affiliation small">Department of Otolaryngology & Communication Enhancement<br />Boston Children's Hospital<br />Boston, Massachusetts</div><div class="affiliation small">Department of Otolaryngology Head and Neck Surgery<br />Harvard Medical School<br />Boston, Massachusetts<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.dravrah.snerdlihc@reraehs.toile" class="oemail">ude.dravrah.snerdlihc@reraehs.toile</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">December 14, 2023</span>.</p><p><em>Estimated reading time: 24 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="strc-hearing-loss.Summary" itemprop="description"><h2 id="_strc-hearing-loss_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p><i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC</i>-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i>. The hearing loss is mild to moderate, <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a>, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with <i>STRC</i>-HL will be identified by newborn hearing screening (NBHS), some newborns with <i>STRC</i>-HL will not because some screening methods may not detect milder hearing loss.</p><p>Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk for <i>CATSPER2</i>-related male infertility due to morphologic sperm abnormalities that affect sperm motility. In contrast, females with contiguous gene deletions do not have related fertility issues.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <i>STRC</i>-HL is established in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with suggestive findings who has ONE of the following identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>: (1) <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> <i>STRC</i> pathogenic variants; (2) one <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> and one <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> and <i>CATSPER2</i>; or (3) biallelic contiguous gene deletions involving <i>STRC</i> and <i>CATSPER2.</i></p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Multidisciplinary supportive treatment for hearing loss that includes an otolaryngologist with expertise in the management of early childhood otologic disorders, an audiologist experienced in the assessment of hearing loss in children, a speech-language pathologist, a clinical geneticist, a genetic counselor, and a pediatrician is recommended. Hearing aids (i.e., sound amplification), customized by an audiologist to the degree and frequency of hearing loss, may be recommended for individuals who have mild-to-moderate hearing loss.</p><p>When males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> reach reproductive age, consultation with a reproductive specialist/endocrinologist for consideration of fertility-related evaluations is appropriate.</p><p><i>Surveillance:</i> To monitor the degree of hearing loss, the individual's response to use of hearing aids, and development of speech and language, the following are recommended: (1) annual examination by an otolaryngologist familiar with genetic hearing loss to evaluate overall ear health; (2) repeat audiometry to identify any change in hearing, typically (a) every three months between birth and age two years, (b) every six months between ages two and five years, and (c) annually in children age five years and older if hearing is stable and there are no other otologic concerns; and (3) evaluation of speech/language/communication needs as recommended by a speech-language pathologist.</p><p><i>Agents/circumstances to avoid:</i> Prolonged noise exposure exceeding 85 dB, including loud noise exposure from headphones and earbuds. Note that a headphone safety feature built into most smartphones can be set to limit the noise level.</p><p><i>Evaluation of relatives at risk:</i> It is appropriate to clarify the genetic status of sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with <i>STRC</i>-HL; early identification of infants and children with hearing loss allows appropriate support and management to be provided to the child and family.</p></div><div><h4 class="inline">Genetic counseling.</h4><p><i>STRC</i>-HL is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> manner. The parents of an individual with <i>STRC</i>-HL are typically <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i> (i.e., a <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> or a <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> and <i>CATSPER2</i>). If both parents are known to be heterozygous for a genetic alteration involving <i>STRC</i>, each sib of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has at conception a 25% chance of having <i>STRC</i>-HL, a 50% chance of being a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> and not having <i>STRC</i>-HL, and a 25% chance of not being a carrier and not having <i>STRC</i>-HL. Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous gene deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk of decreased fertility due to abnormal sperm motility; thus, when they reach reproductive age they may benefit from fertility counseling and discussion of assistive reproductive technology options. Once the genetic alterations involving <i>STRC</i> have been identified in a family member with <i>STRC</i>-HL, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p></div></div><div id="strc-hearing-loss.GeneReview_Scope"><h2 id="_strc-hearing-loss_GeneReview_Scope_"><i>GeneReview</i> Scope</h2><div id="strc-hearing-loss.T.genereview_scope_str" class="table"><div class="caption"><p><i>GeneReview</i> Scope: <i>STRC</i>-Related Autosomal Recessive Hearing Loss</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.T.genereview_scope_str/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.T.genereview_scope_str_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Phenotype</th><th id="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Genotype</th></tr></thead><tbody><tr><td headers="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">Nonsyndromic sensorineural hearing loss <sup>1</sup></td><td headers="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Biallelic <i>STRC</i> pathogenic variants</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">One <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> & one <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> & <i>CATSPER2</i></td></tr><tr><td headers="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss w/decreased fertility in males</td><td headers="hd_h_strc-hearing-loss.T.genereview_scope_str_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Biallelic contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> & <i>CATSPER2</i></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">For synonyms and outdated names, see <a href="#strc-hearing-loss.Nomenclature">Nomenclature</a>.</p></div></dd><dt>1. </dt><dd><div id="strc-hearing-loss.TF.d.1"><p class="no_margin">For other genetic causes of this <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>, see <a href="/books/n/gene/deafness-overview/">Genetic Hearing Loss Overview.</a></p></div></dd></dl></div></div></div></div><div id="strc-hearing-loss.Diagnosis"><h2 id="_strc-hearing-loss_Diagnosis_">Diagnosis</h2><div id="strc-hearing-loss.Suggestive_Findings"><h3>Suggestive Findings</h3><p>The diagnosis of <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC</i>-HL) should be considered in two scenarios: an <a href="#strc-hearing-loss.Scenario_1_Abnormal_Ne">abnormal newborn hearing screening (NBHS) result</a> and a <a href="#strc-hearing-loss.Scenario_2_Symptomatic">symptomatic individual</a> with hearing loss.</p><div id="strc-hearing-loss.Scenario_1_Abnormal_Ne"><h4>Scenario 1: Abnormal Newborn Hearing Screening (NBHS) Result</h4><p>Universal newborn hearing screening (NBHS) uses physiologic screening, either otoacoustic emissions (OAEs), which measure the response of the cochlea to auditory stimuli, or automated auditory brain stem response (AABR) testing, which measures physiologic response of the auditory nerve, brain stem, and brain to varying auditory stimuli. NBHS, required by law or rule in all 50 states in the United States, is performed on >98% of children in the US typically within days after birth (see <a href="https://www.cdc.gov" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.cdc.gov</a>). Note that NBHS, which is designed to detect moderate-to-profound hearing loss, may miss infants with mild hearing loss depending on the screening protocol used.</p><p>On receipt of an abnormal NBHS result, the following medical interventions will begin:</p><ul><li class="half_rhythm"><div>First, diagnostic audiometric testing (typically an initial auditory brain stem response [ABR] test) is performed followed by a confirmatory ABR test, to establish the diagnosis of hearing loss. Note: Evoked otoacoustic emissions (EOAEs) are generally absent [<a class="bk_pop" href="#strc-hearing-loss.REF.back.2019.e48">Back et al 2019</a>, <a class="bk_pop" href="#strc-hearing-loss.REF._ada.2019.3353">Čada et al 2019</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al 2021</a>].</div></li><li class="half_rhythm"><div>After diagnostic testing, medical evaluation by an otolaryngologist (often the first point of contact for children with newly diagnosed hearing loss) is typically performed. This includes:</div><ul><li class="half_rhythm"><div>Prenatal and perinatal history (with risk factors for hearing loss including viral infection in utero, such as cytomegalovirus and rubella, prematurity, aminoglycoside exposure, hyperbilirubinemia)</div></li><li class="half_rhythm"><div>Physical examination to identify:</div><ul><li class="half_rhythm"><div class="half_rhythm">Non-permanent causes (like otitis media, i.e., fluid in the middle ear)</div></li><li class="half_rhythm"><div class="half_rhythm">Outer and middle ear abnormalities causing conductive hearing loss (which may include imaging studies of the middle/inner ear)</div><div class="half_rhythm">Note: Imaging by computed tomography or magnetic resonance imaging shows no abnormalities of the brain and temporal bones for individuals with <i>STRC</i>-HL [<a class="bk_pop" href="#strc-hearing-loss.REF.yokota.2019.4408">Yokota et al 2019</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al 2021</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Features related to an underlying syndrome associated with hearing loss</div></li></ul></li></ul></li><li class="half_rhythm"><div>Next steps may involve consideration of additional audiometric testing and/or genetic tests to establish the underlying diagnosis (see <a href="#strc-hearing-loss.Establishing_the_Diagn">Establishing the Diagnosis</a>).</div></li></ul></div><div id="strc-hearing-loss.Scenario_2_Symptomatic"><h4>Scenario 2: Symptomatic Individual</h4><p><i>STRC</i>-HL <b>should be suspected</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with the following clinical findings and family history.</p><div id="strc-hearing-loss.Clinical_Findings"><h5>
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<b>
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<i>Clinical Findings</i>
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</b>
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</h5><p><b>Congenital, generally non-progressive sensorineural hearing impairment</b>
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<b>that is mild to moderate</b> as measured by ABR testing or pure tone audiometry. The audiograms of individuals with <i>STRC</i>-HL often have a gently downsloping configuration, with hearing typically less affected in the low frequencies compared with the high frequencies.</p><p>Hearing is measured in <b>decibels</b> (dB). The threshold or 0 dB mark for each frequency refers to the level at which young adults with normal hearing perceive a tone burst 50% of the time. Hearing is considered normal if an individual's thresholds are within ~10 dB of normal thresholds. Severity of hearing loss is graded as shown in <a href="/books/NBK598310/table/strc-hearing-loss.T.severity_of_hearing/?report=objectonly" target="object" rid-ob="figobstrchearinglossTseverityofhearing">Table 1</a>.</p><div id="strc-hearing-loss.T.severity_of_hearing" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Severity of Hearing Loss in Decibels (dB)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.T.severity_of_hearing/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.T.severity_of_hearing_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severity</th><th id="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hearing Threshold in dB</th></tr></thead><tbody><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Slight</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12-25 dB</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mild</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">26-40 dB</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderate</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">41-60 dB</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderately severe</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">61-70 dB</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">71-90 dB</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Profound</td><td headers="hd_h_strc-hearing-loss.T.severity_of_hearing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>90 dB</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Based on <a href="/books/n/gene/deafness-overview/">Genetic Hearing Loss Overview</a>.</p></div></dd></dl></div></div></div><p><b>No related systemic findings</b> identified by medical history, physical examination, or imaging of the inner ear and temporal bones (if such imaging is performed).</p></div><div id="strc-hearing-loss.Family_History"><h5>
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<b>
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<i>Family History</i>
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</b>
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</h5><p>Family history is consistent with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> inheritance (e.g., affected sibs and/or parental <a class="def" href="/books/n/gene/glossary/def-item/consanguinity/">consanguinity</a>). Absence of a known family history does not preclude the diagnosis.</p></div></div></div><div id="strc-hearing-loss.Establishing_the_Diagn"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <i>STRC</i>-HL <b>is established</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with <a href="#strc-hearing-loss.Suggestive_Findings">suggestive findings</a> who has ONE of the following identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> (see <a href="/books/NBK598310/table/strc-hearing-loss.T.molecular_genetic_te/?report=objectonly" target="object" rid-ob="figobstrchearinglossTmoleculargeneticte">Table 2</a>):</p><ul><li class="half_rhythm"><div>Biallelic <i>STRC</i> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variants</div><div>OR</div></li><li class="half_rhythm"><div>One <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variant) and one <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> and <i>CATSPER2</i></div><div>OR</div></li><li class="half_rhythm"><div>Biallelic contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i></div></li></ul><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "<a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>" and "<a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [<a class="bk_pop" href="#strc-hearing-loss.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this <i>GeneReview</i> is understood to include likely pathogenic variants. (2) Identification of <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> <i>STRC</i> variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> (or of one known <i>STRC</i> pathogenic variant and one <i>STRC</i> variant of uncertain significance) does not establish or rule out the diagnosis.</p><p><b>Approaches to <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a></b> include use of a <b>hearing loss <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a> that includes methods to detect copy number variants (CNVs)</b> or <b>comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b>.</p><p>Note: Single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing (<a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> of <i>STRC</i>, followed by gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>) is NOT recommended.</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>A</b>
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<b>multigene hearing loss panel</b>
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<b>that includes methods to detect CNVs</b> and <i>STRC</i> and other genes of interest (see <a href="#strc-hearing-loss.Differential_Diagnosis">Differential Diagnosis</a>) may be considered to identify the genetic cause of the condition while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. This may be necessary given the high <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> complexity of the <i>STRC-CATSPER2</i> region, which includes pseudogenes with high homology due to segmental <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a>.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) is likely involved. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible. To date, a significant proportion of <i>STRC</i> pathogenic variants are deletions within the <a class="def" href="/books/n/gene/glossary/def-item/coding-region/">coding region</a> which are variably detected by <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> depending on the analysis tools used. Genome sequencing generally provides more <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> for detection of <i>STRC</i> deletions.</div><div class="half_rhythm">For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</div></li></ul><div id="strc-hearing-loss.T.molecular_genetic_te" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>STRC</i>-Related Autosomal Recessive Hearing Loss</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.T.molecular_genetic_te/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.T.molecular_genetic_te_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_strc-hearing-loss.T.molecular_genetic_te_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_strc-hearing-loss.T.molecular_genetic_te_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants <sup>2</sup> Detectable by Method</th><th id="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Percent of Individuals w/<i>STRC</i>-HL in Whom Method(s) Establishes Molecular Diagnosis <sup>3</sup></th></tr></thead><tbody><tr><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>STRC</i>
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</td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>4</sup></td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~20% <sup>5, 6</sup></td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~30% (<a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> <i>STRC</i> pathogenic variants)</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">CNV analysis <sup>7</sup></td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80% <sup>8</sup></td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~40% (<a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> & <i>CATSPER2</i>) <sup>9</sup></td></tr><tr><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_2 hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_3" colspan="2" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Both sequence & CNV analysis</td><td headers="hd_h_strc-hearing-loss.T.molecular_genetic_te_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~30% (compound heterozygosity for one <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> & one <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> & <i>CATSPER2</i>)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">CNV = <a class="def" href="/books/n/gene/glossary/def-item/copy-number-variant/">copy number variant</a>; <i>STRC</i>-HL = <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss</p></div></dd><dt>1. </dt><dd><div id="strc-hearing-loss.TF.2.1"><p class="no_margin">See <a href="/books/NBK598310/#strc-hearing-loss.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>2. </dt><dd><div id="strc-hearing-loss.TF.2.2"><p class="no_margin">See <a href="#strc-hearing-loss.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div></dd><dt>3. </dt><dd><div id="strc-hearing-loss.TF.2.3"><p class="no_margin">Provided figures are estimates based on <a class="bk_pop" href="#strc-hearing-loss.REF.shearer.2014.37">Shearer et al [2014]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.han.2021.707845">Han et al [2021]</a>, and <a class="bk_pop" href="#strc-hearing-loss.REF.shubinaoleinik.2021.eabi7629">Shubina-Oleinik et al [2021]</a>.</p></div></dd><dt>4. </dt><dd><div id="strc-hearing-loss.TF.2.4"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants and small intragenic deletions/insertions; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>5. </dt><dd><div id="strc-hearing-loss.TF.2.5"><p class="no_margin">Provided figures are estimates based on <a class="bk_pop" href="#strc-hearing-loss.REF.shearer.2014.37">Shearer et al [2014]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.amr.2018.705">Amr et al [2018]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.han.2021.707845">Han et al [2021]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.nishio.2022.634">Nishio & Usami [2022]</a>, and data derived from the subscription-based professional view of Human Gene Mutation Database [<a class="bk_pop" href="#strc-hearing-loss.REF.stenson.2020.1197">Stenson et al 2020</a>].</p></div></dd><dt>6. </dt><dd><div id="strc-hearing-loss.TF.2.6"><p class="no_margin">Supplementing standard <a class="def" href="/books/n/gene/glossary/def-item/next-generation-sequencing/">next-generation sequencing</a> (NGS) methods with long-range <a class="def" href="/books/n/gene/glossary/def-item/pcr/">PCR</a>-based sequencing or NGS assays increases the yield of pathogenic <i>STRC</i> sequencing variants by eliminating <a class="def" href="/books/n/gene/glossary/def-item/pseudogene/">pseudogene</a> contamination.</p></div></dd><dt>7. </dt><dd><div id="strc-hearing-loss.TF.2.7"><p class="no_margin">Most reported <i>STRC</i> deletions/duplications are large and detectable by <a class="def" href="/books/n/gene/glossary/def-item/chromosomal-microarray/">chromosomal microarray</a> analysis (CMA). CMA uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including <i>STRC</i>) that cannot be detected by <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>. The ability to determine the size of the <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a>/<a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> depends on the type of microarray used and the density of probes in the 15q15.3 region. CMA designs in current clinical use targets the 15q15.3 region. Smaller deletions/duplications involving single or multiple exons within the <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> (which are less frequently seen than contiguous gene copy number abnormalities) are also detectable using <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a> or multiplex ligation-dependent probe amplification (MLPA). MLPA is an effective method to also eliminate <a class="def" href="/books/n/gene/glossary/def-item/pseudogene/">pseudogene</a> contamination and is frequently used to evaluate <i>STRC</i> CNVs. Exome and <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a> with CNV detection may be able to detect deletions/duplications.</p></div></dd><dt>8. </dt><dd><div id="strc-hearing-loss.TF.2.8"><p class="no_margin">Provided figures are estimates based on <a class="bk_pop" href="#strc-hearing-loss.REF.mandelker.2014.639">Mandelker et al [2014]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.shearer.2014.37">Shearer et al [2014]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.han.2021.707845">Han et al [2021]</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.nishio.2022.634">Nishio & Usami [2022]</a>.</p></div></dd><dt>9. </dt><dd><div id="strc-hearing-loss.TF.2.9"><p class="no_margin">Based on published reports to date, <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are estimated to be the most prevalent <a class="def" href="/books/n/gene/glossary/def-item/genotype/">genotype</a> in individuals with <i>STRC</i>-HL [<a class="bk_pop" href="#strc-hearing-loss.REF.nishio.2022.634">Nishio & Usami 2022</a>].</p></div></dd></dl></div></div></div></div></div><div id="strc-hearing-loss.Clinical_Characteristi"><h2 id="_strc-hearing-loss_Clinical_Characteristi_">Clinical Characteristics</h2><div id="strc-hearing-loss.Clinical_Description"><h3>Clinical Description</h3><p><i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC</i>-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males when associated with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i>.</p><div id="strc-hearing-loss.STRCRelated_Autosomal"><h4><i>STRC</i>-Related Autosomal Recessive Hearing Loss</h4><p><i>STRC</i>-HL is characterized by <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> bilateral symmetric mild-to-moderate hearing loss. Although <i>STRC</i>-HL is congenital, some individuals with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> pathogenic <i>STRC</i> variants may pass their newborn hearing screening (NBHS) due to the variability of NBHS methods, some of which may not detect milder hearing loss.</p><p>Mean pure tone average at the time of the diagnosis of <i>STRC</i>-HL is approximately 40-50 decibels (dB). <i>STRC</i>-HL is generally not associated with hearing loss in the severe-to-profound range in children or young adults.</p><p>Rarely phenotypic variability has been noted in <i>STRC</i>-HL. In one study, about one in 39 individuals with <i>STRC</i>-HL had hearing loss in the moderate-to-severe range [<a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al 2021</a>].</p><p>A gradual progression of hearing loss, at a rate of 0.6 dB per year on average across frequencies, was documented in a cohort of individuals with <i>STRC</i>-HL, in which 18 of 31 individuals experienced progression over the study follow-up period (mean period of 6.1 years) (see <a href="/books/NBK598310/table/strc-hearing-loss.T.progression_of_heari/?report=objectonly" target="object" rid-ob="figobstrchearinglossTprogressionofheari">Table 3</a>). Hearing thresholds were in the moderate range of severity or better for more than 96% of this cohort at the end of the study period, with no individuals with hearing in the severe-to-profound range [<a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al 2021</a>].</p><div id="strc-hearing-loss.T.progression_of_heari" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Progression of Hearing Loss in <i>STRC</i>-Related Autosomal Recessive Hearing Loss</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.T.progression_of_heari/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.T.progression_of_heari_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_1" style="text-align:left;vertical-align:middle;">Time Point</th><th id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" colspan="5" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Pure Tone Hearing Average</th></tr><tr><th headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Normal</th><th headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mild loss</th><th headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderate loss</th><th headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderate-to-severe loss</th><th headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2" id="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe-to-profound loss</th></tr></thead><tbody><tr><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Baseline</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">39%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">51%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0%</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Follow up <sup>1</sup></td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">77%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3%</td><td headers="hd_h_strc-hearing-loss.T.progression_of_heari_1_1_1_2 hd_h_strc-hearing-loss.T.progression_of_heari_1_1_2_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0%</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">
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<a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al [2021]</a>
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</p></div></dd><dt>1. </dt><dd><div id="strc-hearing-loss.TF.3.1"><p class="no_margin">Mean period 6.1 years</p></div></dd></dl></div></div></div><p>With the degree of hearing loss and rate of progression documented by <a class="bk_pop" href="#strc-hearing-loss.REF.simi.2021.e2897">Simi et al [2021]</a>, as well as the underlying cochlear physiology of <i>STRC</i>-HL, in which cochlear inner hair cell function is preserved, it is expected that individuals with <i>STRC</i>-HL will continue to derive benefit from hearing aids and will not require alternative interventions such as cochlear implantation.</p><p>While <i>STRC</i>-HL is considered nonsyndromic, preliminary data suggest that affected individuals are at increased risk to develop recurrent benign paroxysmal positional vertigo (BPPV) [<a class="bk_pop" href="#strc-hearing-loss.REF.frykholm.2018.1871">Frykholm et al 2018</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.achard.2023a.e241">Achard et al 2023a</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.achard.2023b.127">Achard et al 2023b</a>]. Although one study reported that 39% of 64 individuals developed BPPV at an median age of 13 years [<a class="bk_pop" href="#strc-hearing-loss.REF.achard.2023a.e241">Achard et al 2023a</a>], these data need to be confirmed. The proposed mechanism includes possible physiologic differences in the vestibular system caused by aberrant attachment between hair cells in the crista ampullaris and the overlying cupula.</p></div><div id="strc-hearing-loss.Decreased_Male_Fertili"><h4>Decreased Male Fertility</h4><p>Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk for <i>CATSPER2</i>-related male infertility associated with morphologic sperm abnormalities that affect sperm motility.</p><p>Females with contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> have no related fertility issues.</p></div></div><div id="strc-hearing-loss.GenotypePhenotype_Corr"><h3>Genotype-Phenotype Correlations</h3><p>No <a class="def" href="/books/n/gene/glossary/def-item/genotype-phenotype-correlations/">genotype-phenotype correlations</a> have been identified that distinguish between the hearing loss associated in persons with the following two genotypes:</p><ul><li class="half_rhythm"><div>Biallelic intragenic <i>STRC</i> pathogenic variants (including whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions without <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> of contiguous genes)</div></li><li class="half_rhythm"><div>Compound heterozygosity for one intragenic <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (including a whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> without a <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a>) and one <i>STRC</i> contiguous gene deletion</div></li></ul><p>Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk of decreased fertility due to abnormal sperm motility.</p></div><div id="strc-hearing-loss.Nomenclature"><h3>Nomenclature</h3><p>Nonsyndromic hearing impairment may be referred to by the <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> involved (e.g., <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss) or by the genetic <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> (e.g., DFNB16).</p><p>Nonsyndromic deafness loci are designated DFN (for <b>D</b>ea<b>FN</b>ess) and further classified by <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a> (DFN<b>A</b>: <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; DFN<b>B</b>: <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; DFN<b>X</b>: <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a>) and a number indicating the order of <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> mapping and/or discovery. The term DFNB16 is used consistently in the literature to refer to <i>STRC</i>-HL but, as a term, does not encompass the decreased male fertility associated with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous gene deletions involving <i>STRC</i> and <i>CATSPER2</i>.</p></div><div id="strc-hearing-loss.Prevalence"><h3>Prevalence</h3><p><b>Prevalence of <i>STRC-</i>HL.</b>
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<i>STRC</i>-HL, the second most common cause of hereditary sensorineural hearing loss after <a href="/books/n/gene/dfnb1/"><i>GJB2-</i>related autosomal recessive nonsyndromic hearing loss</a>, accounts for close to ~15% of all diagnoses of hereditary hearing loss and 30% of all diagnoses of mild-to-moderate sensorineural hearing loss [<a class="bk_pop" href="#strc-hearing-loss.REF.shearer.2014.37">Shearer et al 2014</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.sloanheggen.2016.441">Sloan-Heggen et al 2016</a>, <a class="bk_pop" href="#strc-hearing-loss.REF.perry.2023.2417">Perry et al 2023</a>].</p><p>In a large meta-analysis, the overall prevalence of <i>STRC</i>-HL in individuals who did not have <a href="/books/n/gene/dfnb1/"><i>GJB2-</i>related autosomal recessive nonsyndromic hearing loss</a> was 4.08%, and the proportion of <i>STRC</i> pathogenic variants in the mild-to-moderate hearing loss group was 14.36% [<a class="bk_pop" href="#strc-hearing-loss.REF.han.2021.707845">Han et al 2021</a>]. A study analyzing a large cohort of Japanese individuals with hearing loss found the prevalence of <i>STRC</i>-HL to be 4.27% in individuals with mild-to-moderate hearing loss [<a class="bk_pop" href="#strc-hearing-loss.REF.nishio.2022.634">Nishio & Usami 2022</a>].</p><p><b>Carrier frequency for <i>STRC</i> pathogenic variants or <i>STRC</i>-<i>CATSPER2</i> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions.</b> One study that analyzed <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> data alongside phenotypic information from a large, ethnically and racially diverse cohort of normal-hearing children estimated the <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> frequency to be 1.8% [<a class="bk_pop" href="#strc-hearing-loss.REF.shubinaoleinik.2021.eabi7629">Shubina-Oleinik et al 2021</a>]. In another meta-analysis of individuals with normal hearing the estimated carrier frequency was 1.36% [<a class="bk_pop" href="#strc-hearing-loss.REF.han.2021.707845">Han et al 2021</a>].</p><p>Based on published data to date, an estimated 27,000 individuals in the United States have <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> <i>STRC</i> pathogenic genetic alterations.</p></div></div><div id="strc-hearing-loss.Genetically_Related_Al"><h2 id="_strc-hearing-loss_Genetically_Related_Al_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> pathogenic variants in <i>STRC</i>.</p></div><div id="strc-hearing-loss.Differential_Diagnosis"><h2 id="_strc-hearing-loss_Differential_Diagnosis_">Differential Diagnosis</h2><p><b>Autosomal recessive nonsyndromic hearing loss (AR NSHL).</b> As of this writing, more than 75 genes have been associated with AR NSHL. Biallelic genetic alterations involving <i>STRC</i> are the most common cause of mild-to-moderate sensorineural hearing loss and the second most common cause of <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss overall [<a class="bk_pop" href="#strc-hearing-loss.REF.sloanheggen.2016.441">Sloan-Heggen et al 2016</a>]. See <a href="/books/n/gene/deafness-overview/">Genetic Hearing Loss Overview</a>.</p><p><a href="/books/NBK598310/table/strc-hearing-loss.T.selected_genes_of_in/?report=objectonly" target="object" rid-ob="figobstrchearinglossTselectedgenesofin">Table 4</a> lists selected genes of interest in the differential diagnosis of <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss; for a current, comprehensive list of all identified autosomal recessive nonsyndromic hearing loss genes, see <a href="https://hereditaryhearingloss.org/recessive-genes" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Hereditary Hearing Loss Homepage</a>.</p><div id="strc-hearing-loss.T.selected_genes_of_in" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Selected Genes of Interest in the Differential Diagnosis of Nonsyndromic Mild-to-Moderate <i>STRC</i>-Related Autosomal Recessive Hearing Loss</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.T.selected_genes_of_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.T.selected_genes_of_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GJB2</i>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/dfnb1/"><i>GJB2</i>-related AR NSHL</a>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Most common genetic cause of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> severe-to-profound non-progressive sensorineural HL in many world populations</div></li><li class="half_rhythm"><div>Some <i>GJB2</i> pathogenic variants are assoc w/mild-to-moderate HL.</div></li></ul>
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</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ADGRV1</i>
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<br />
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<i>USH2A</i>
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<br />
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<i>WHRN</i>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/usher2/">Usher syndrome type II</a>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Usher syndrome overall (i.e., Usher syndrome types I, II, & III) is the most common type of AR <a class="def" href="/books/n/gene/glossary/def-item/syndromic/">syndromic</a> HL & is a nonsyndromic HL mimic (HL is <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> w/later onset of retinitis pigmentosa in adolescence or early adulthood).</div></li><li class="half_rhythm"><div>Usher syndrome type II is assoc w/<a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a>, bilateral sensorineural HL that is mild to moderate in the low frequencies & severe to profound in the high frequencies.</div></li></ul>
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</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>OTOA</i>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nonsyndromic <a href="/books/n/gene/deafness-overview/">hearing loss</a> (OMIM <a href="https://omim.org/entry/607039" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607039</a>)</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>May be assoc w/mid-frequency HL in moderate range (but is often severe to profound)</div></li><li class="half_rhythm"><div>Gene deletions are common causative variants.</div></li></ul>
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</td></tr><tr><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>OTOG</i>
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<br />
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<i>OTOGL</i>
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</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nonsyndromic <a href="/books/n/gene/deafness-overview/">hearing loss</a> (OMIM <a href="https://omim.org/entry/614944" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614944</a>)</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_strc-hearing-loss.T.selected_genes_of_in_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Non-progressive moderate HL</div></li><li class="half_rhythm"><div>Occasional vestibular hypofunction</div></li></ul>
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</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; NSHL = nonsyndromic hearing loss; HL = hearing loss; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd></dl></div></div></div><p><b>Decreased fertility.</b> See <a href="https://omim.org/phenotypicSeries/PS258150" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM Phenotypic Series: Spermatogenic failure</a> for genes associated with male infertility.</p></div><div id="strc-hearing-loss.Management"><h2 id="_strc-hearing-loss_Management_">Management</h2><div id="strc-hearing-loss.Evaluations_Following"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of involvement and needs of an individual diagnosed with <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC-</i>HL), the following evaluations are recommended:</p><ul><li class="half_rhythm"><div>Complete assessment of auditory acuity using age-appropriate tests such as auditory brain stem response (ABR) testing, auditory steady-state response (ASSR) testing, and pure tone audiometry</div></li><li class="half_rhythm"><div>Evaluation by an otolaryngologist to assess ear health (e.g., middle ear status, cerumen management), dizziness and vertigo (which could be an indication of benign paroxysmal positional vertigo [BPPV]), medical appropriateness of amplification/hearing aids, need for hearing support in a school setting, and overall well-being</div></li><li class="half_rhythm"><div>Evaluation by a speech-language pathologist for assessment of communication needs (through early intervention, in a school setting, or privately)</div></li><li class="half_rhythm"><div>Complete ophthalmologic examination to assess visual acuity. Although <i>STRC-</i>HL is not associated with ophthalmologic findings, ophthalmologic examination is performed because children with hearing loss rely heavily on their vision; thus, it is imperative that reduced vision of whatever cause be promptly identified and addressed.</div></li><li class="half_rhythm"><div>Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>, and implications of <i>STRC</i>-HL in order to facilitate medical and personal decision making. Counseling on risk for decreased fertility in males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> should also be shared, when appropriate.</div></li><li class="half_rhythm"><div>Assess need for family support and resources including community or online <a href="#strc-hearing-loss.Resources">resources</a> such as <a href="https://www.p2pusa.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a> and social work involvement for parental support.</div></li></ul></div><div id="strc-hearing-loss.Treatment_of_Manifesta"><h3>Treatment of Manifestations</h3><p><b>Multidisciplinary supportive treatment.</b> Multidisciplinary supportive treatment for hearing loss that includes an otolaryngologist with expertise in the management of early childhood otologic disorders, an audiologist experienced in the assessment of hearing loss in children, a speech-language pathologist, a clinical geneticist, a genetic counselor, and a pediatrician is recommended.</p><p>Hearing aids (i.e., sound amplification), customized by an audiologist to the degree and frequency of hearing loss, are often recommended in individuals with mild-to-moderate hearing loss.</p><p>See <a href="/books/n/gene/deafness-overview/">Genetic Hearing Loss Overview</a> for discussion of other management issues.</p><p><b>Decreased male fertility.</b> Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk for abnormal sperm motility. When reproductive age is reached, consultation with a reproductive specialist/endocrinologist for consideration of fertility-related evaluations is appropriate.</p></div><div id="strc-hearing-loss.Surveillance"><h3>Surveillance</h3><p>To monitor the degree of hearing loss, the individual's response to use of hearing aids, and development of speech and language, the following evaluations are recommended:</p><ul><li class="half_rhythm"><div>Annual examination by an otolaryngologist familiar with genetic hearing loss to assure that no other reversible factors may be contributing to hearing loss, such as otitis media or cerumen impaction. This visit also ensures health of the ears in the presence of hearing aids.</div></li><li class="half_rhythm"><div>Repeat audiometry to identify any change in hearing. In general, audiologic evaluation is recommended every three months between birth and age two years and every six months between the ages of two and five years. Hearing tests can occur annually for children age five years and older if hearing is stable and there are no additional otologic concerns. Audiologic scheduling and follow up will be determined by the individual's managing audiologist.</div></li><li class="half_rhythm"><div>Evaluation of speech and language and/or communication as recommended by a speech-language pathologist</div></li></ul></div><div id="strc-hearing-loss.AgentsCircumstances_to"><h3>Agents/Circumstances to Avoid</h3><p>Noise exposure is a well-recognized environmental cause of hearing loss. Since this risk can be minimized by avoidance, persons with documented hearing loss should be counseled appropriately and repeated overexposure to loud noises should be avoided. There is no established "safe" noise level; however, the United States Occupational Safety and Health Administration (OSHA) and National Institute for Occupational Safety and Health (NIOSH) have identified a permissible noise exposure limit of 85 decibels (dB) over an eight-hour work day.</p><p>One of the primary sources of loud noise exposure in our environment is sound from headphones and earbuds. An 85-dB limit on earbuds and headphones may provide a reasonable way to reduce loud noise exposure. The headphone safety feature built into most smartphones can be set to limit noise level.</p><p>Headphone/earbud safety features can be found in the phone settings menu:</p><ul><li class="half_rhythm"><div>In iPhones, under Settings > Sounds & Haptics > Headphone Safety</div></li><li class="half_rhythm"><div>In Android phones, under Settings > Sounds & Vibrations > Volume > Media Volume Limit</div></li></ul><p>Also see these general resources on noise reduction:</p><ul><li class="half_rhythm"><div>
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<a href="https://deafblind.org.uk/6-simple-ways-to-check-if-your-headphones-are-too-loud/#:~:text=How%20Loud%20and%20How%20Long,usage%20to%20within%2015%20mins" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">6 Simple Ways To Check If Your Headphones Are Too Loud</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cdc.gov/nceh/hearing_loss/how_do_i_prevent_hearing_loss.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">How Do I Prevent Hearing Loss from Loud Noise?</a>
|
||
</div></li></ul></div><div id="strc-hearing-loss.Evaluation_of_Relative"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to clarify the genetic status of sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with <i>STRC-</i>HL if:</p><ul><li class="half_rhythm"><div>A newborn sib has an abnormal result on universal newborn hearing screening (NBHS);</div></li><li class="half_rhythm"><div>A newborn sib has a normal result on NBHS (as NBHS may miss newborns with milder hearing loss); or</div></li><li class="half_rhythm"><div>A sib did not undergo NBHS and/or NBHS results are unknown.</div></li></ul><p>Early identification of infants and children with hearing loss allows appropriate support and management to be provided to the child and family.</p><p>See <a href="#strc-hearing-loss.Related_Genetic_Counse">Genetic Counseling</a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="strc-hearing-loss.Therapies_Under_Invest"><h3>Therapies Under Investigation</h3><p>Using a mouse model with a targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> of <i>STRC</i> and a resulting 60-dB sensorineural hearing loss, <a class="bk_pop" href="#strc-hearing-loss.REF.shubinaoleinik.2021.eabi7629">Shubina-Oleinik et al [2021]</a> used a dual adeno-associated viral vector approach to deliver a full-length copy of <i>STRC</i> to the outer hair cells of the cochlea that restored – in 50% of mice – auditory function by a significant margin. Although this study indicates <i>STRC</i> may be a promising target for <a class="def" href="/books/n/gene/glossary/def-item/gene-therapy/">gene therapy</a>, to date there are no human clinical trials for this disorder.</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="strc-hearing-loss.Genetic_Counseling"><h2 id="_strc-hearing-loss_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="strc-hearing-loss.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p><i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC</i>-HL) is inherited in an autosomal recessive manner.</p></div><div id="strc-hearing-loss.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div class="half_rhythm">The parents of an individual with <i>STRC</i>-HL are presumed to be <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i> (i.e., an <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> or a <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving <i>STRC</i> and <i>CATSPER2</i>).</div></li><li class="half_rhythm"><div class="half_rhythm">Molecular genetic testing capable of detecting the genetic alterations identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is recommended for the parents to confirm that both parents are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i> and to allow reliable recurrence assessment.</div></li><li class="half_rhythm"><div class="half_rhythm">If a genetic alteration is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the genetic alterations identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> occurred as a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> event in the proband or as a <a class="def" href="/books/n/gene/glossary/def-item/postzygotic/">postzygotic</a> <i>de novo</i> event in a mosaic parent [<a class="bk_pop" href="#strc-hearing-loss.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. Preliminary data suggest that a significant proportion <i>STRC</i> copy number alterations are <i>de novo</i> [<a class="bk_pop" href="#strc-hearing-loss.REF.klimara.2022.2555">Klimara et al 2022</a>].</div><div class="half_rhythm">If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> appears to have <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> genetic alterations (i.e., the same two genetic alterations), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> that was not detected by <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> with the genetic alteration that resulted in homozygosity for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul></li><li class="half_rhythm"><div class="half_rhythm">Individuals who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i> do not have an increased chance of <i>STRC</i>-HL.</div></li></ul><p>
|
||
<b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>If both parents are known to be <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i>, each sib of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has at conception a 25% chance of having <i>STRC</i>-HL, a 50% chance of being a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> and not having <i>STRC</i>-HL, and a 25% chance of not being a carrier and not having <i>STRC</i>-HL.</div></li><li class="half_rhythm"><div><i>STRC-</i>HL is typically <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> and in the mild-to-moderate range of severity with minimal or no progression for both probands and sibs, regardless of the <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> genetic alterations. There can be slight differences in clinical presentations between sibs.</div></li><li class="half_rhythm"><div>Individuals who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a genetic alteration involving <i>STRC</i> do not have an increased chance of <i>STRC</i>-HL.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Unless the proband's reproductive partner also has <i>STRC</i>-HL or is a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> of a genetic alteration involving <i>STRC</i>, offspring will be obligate heterozygotes (i.e., carriers of a genetic alteration involving <i>STRC</i>).</p><p><b>Other family members.</b> Each sib of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents has a 50% chance of being a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> of a genetic alteration involving <i>STRC.</i></p><p><b>Carrier detection.</b> Carrier testing for relatives requires prior identification of the genetic alterations involving <i>STRC</i> in the family.</p></div><div id="strc-hearing-loss.Related_Genetic_Counse"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#strc-hearing-loss.Evaluation_of_Relative">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p><b>Other</b>. See Related Genetic Counseling Issues in <a href="/books/n/gene/deafness-overview/#deafness-overview.Related_Genetic_Counse">Genetic Hearing Loss Overview</a> for review of communication, terminology, and family-centered counseling considerations.</p><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic status and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of the probability of deafness in offspring and reproductive options) to young adults who are deaf.</div></li><li class="half_rhythm"><div>Males with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>STRC</i> and <i>CATSPER2</i> are at risk of decreased fertility due to abnormal sperm motility; thus, when they reach reproductive age they may benefit from fertility counseling and discussion of assistive reproductive technology options.</div></li></ul></div><div id="strc-hearing-loss.Prenatal_Testing_and_P"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the genetic alterations involving <i>STRC</i> have been identified in a family member with <i>STRC</i>-HL, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. 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="strc-hearing-loss.Resources"><h2 id="_strc-hearing-loss_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>Alexander Graham Bell Association for the Deaf and Hard of Hearing</b>
|
||
</div><div><b>Phone:</b> 866-337-5220 (toll-free); 202-337-5221 (TTY)</div><div><b>Fax:</b> 202-337-8314</div><div><b>Email:</b> info@agbell.org</div><div>
|
||
<a href="https://www.agbell.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Listening and Spoken Language Knowledge Center</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>American Society for Deaf Children</b>
|
||
</div><div><b>Phone:</b> 800-942-2732 (ASDC)</div><div><b>Email:</b> info@deafchildren.org</div><div>
|
||
<a href="https://deafchildren.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">deafchildren.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>American Speech-Language-Hearing Association (ASHA)</b>
|
||
</div><div><b>Phone:</b> 800-638-8255; 301-296-5650 (TTY)</div><div><b>Fax:</b> 301-296-8580</div><div>
|
||
<a href="https://www.asha.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.asha.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>BabyHearing.org</b>
|
||
</div><div>
|
||
<i>This site, developed with support from the National Institute on Deafness and Other Communication Disorders, provides information about newborn hearing screening and hearing loss.</i>
|
||
</div><div>
|
||
<a href="https://www.babyhearing.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">babyhearing.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Hands & Voices</b>
|
||
</div><div>
|
||
<a href="https://handsandvoices.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.handsandvoices.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Medical Home Portal</b>
|
||
</div><div>
|
||
<a href="https://www.medicalhomeportal.org/diagnoses-and-conditions/hearing-loss-and-deafness" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Hearing Loss and Deafness</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>MedlinePlus</b>
|
||
</div><div>
|
||
<a href="https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Nonsyndromic hearing loss</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Association of the Deaf</b>
|
||
</div><div><b>Phone:</b> 301-587-1788 (Purple/ZVRS); 301-328-1443 (Sorenson); 301-338-6380 (Convo)</div><div><b>Fax:</b> 301-587-1791</div><div><b>Email:</b> nad.info@nad.org</div><div>
|
||
<a href="https://www.nad.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">nad.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Newborn Screening in Your State</b>
|
||
</div><div>Health Resources & Services Administration</div><div>
|
||
<a href="https://newbornscreening.hrsa.gov/your-state" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">newbornscreening.hrsa.gov/your-state</a>
|
||
</div></li></ul>
|
||
</div><div id="strc-hearing-loss.Molecular_Genetics"><h2 id="_strc-hearing-loss_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 id="strc-hearing-loss.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>STRC-Related Autosomal Recessive Hearing Loss: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK598310/table/strc-hearing-loss.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_strc-hearing-loss.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/117155" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>CATSPER2</i>
|
||
</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=117155" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">15q15<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q96P56" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Cation channel sperm-associated protein 2</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/CATSPER2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CATSPER2 database</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CATSPER2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CATSPER2</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=CATSPER2[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CATSPER2</a>
|
||
</td></tr><tr><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/161497" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>STRC</i>
|
||
</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=161497" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">15q15</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q7RTU9" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Stereocilin</a>
|
||
</td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_strc-hearing-loss.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=STRC[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">STRC</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="strc-hearing-loss.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="strc-hearing-loss.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for STRC-Related Autosomal Recessive Hearing Loss (<a href="/omim/603720,606440,607249,611102" 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/NBK598310/table/strc-hearing-loss.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__strc-hearing-loss.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603720" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603720</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/606440" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">606440</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">STEREOCILIN; STRC</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/607249" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">607249</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/611102" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">611102</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEAFNESS-INFERTILITY SYNDROME; DIS</td></tr></tbody></table></div></div><div id="strc-hearing-loss.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>The delicate molecular machinery of the cochlea that permits hearing in humans involves hundreds of genes. <i>STRC</i> encodes stereocilin, an extracellular structural protein that is expressed on outer hair cells (OHCs) in the organ of Corti of the cochlea. Stereocilin connects adjacent stereocilia and links hair cell bundles to the tectorial membrane, enabling sound dampening, amplification of soft sounds, and frequency tuning. For proper auditory function, a physical connection must be maintained between these bundles of stereocilia and the overlying tectorial membrane. The OHCs and tectorial membrane (which work to detect pitch, discriminate frequency, and dampen sound) are nonfunctioning in <i>STRC</i>-HL and result in loss of proper auditory function. Because the inner hair cells (IHCs) (which are responsible for the mechanotransduction of sound) are still viable, loss of stereocilin function does not lead to severe-to-profound hearing loss.</p><p><b>Mechanism of disease causation.</b> Loss of function</p><p><b><i>STRC</i>-specific laboratory technical considerations.</b>
|
||
<i>STRC</i> is part of a large tandem <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> that gave rise to a <a class="def" href="/books/n/gene/glossary/def-item/pseudogene/">pseudogene</a> (<i>STRCP1</i>) that shares 98.9% overall homology with <i>STRC</i> and more than 99% sequence homology with the <a class="def" href="/books/n/gene/glossary/def-item/coding-region/">coding region</a> of <i>STRC</i> [<a class="bk_pop" href="#strc-hearing-loss.REF.francey.2012.298">Francey et al 2012</a>]. As such, accurate <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> sequencing and detection of single nucleotide variants present a diagnostic challenge. Sensitivity for variant detection is improved with long-range <a class="def" href="/books/n/gene/glossary/def-item/pcr/">PCR</a> and <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a> techniques. Given these challenges, some clinical molecular diagnostic laboratories do not offer direct sequencing of <i>STRC</i>.</p><p>In addition, the <i>STRC</i> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> lies within a tandem <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> with a predisposition for <a class="def" href="/books/n/gene/glossary/def-item/nonallelic-homologous-recombination/">nonallelic homologous recombination</a> and is therefore associated with a high frequency of 15q15.3 contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions involving <i>CATSPER2</i>, necessitating accurate methods for detection of copy number variants (CNVs). Methods such as multiplex ligation-dependent amplification (MLPA), array <a class="def" href="/books/n/gene/glossary/def-item/comparative-genomic-hybridization/">comparative genomic hybridization</a> (CGH), or single-nucleotide <a class="def" href="/books/n/gene/glossary/def-item/polymorphism/">polymorphism</a> (SNP) arrays should be considered by clinical molecular diagnostic laboratories testing for <i>STRC-</i>HL. CNV analysis methods as part of <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> or <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a> may also be used. Genome sequencing has been shown to be sensitive for detection of deletions involving 15q15.3 [<a class="bk_pop" href="#strc-hearing-loss.REF.abbasi.2022.387">Abbasi et al 2022</a>].</p></div></div><div id="strc-hearing-loss.Chapter_Notes"><h2 id="_strc-hearing-loss_Chapter_Notes_">Chapter Notes</h2><div id="strc-hearing-loss.Author_Notes"><h3>Author Notes</h3><p>
|
||
<a href="https://www.hearing-genomics.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Translational Hearing Genomics Lab</a>
|
||
</p><p><b>A Eliot Shearer, MD, PhD</b> (<a href="mailto:dev@null" data-email="ude.dravrah.snerdlihc@reraehs.toile" class="oemail">ude.dravrah.snerdlihc@reraehs.toile</a>), is actively involved in clinical research regarding individuals with <i>STRC</i>-related <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hearing loss (<i>STRC</i>-HL). He would be happy to communicate with persons who have any questions regarding diagnosis of <i>STRC</i>-HL or other considerations.</p><p>Dr Shearer is also interested in hearing from clinicians treating families affected by hereditary hearing loss in whom no causative variant has been identified through <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> of the genes known to be involved in this group of disorders.</p><p>Contact Dr Shearer to inquire about review of <i>STRC</i> variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>.</p></div><div id="strc-hearing-loss.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>14 December 2023 (bp) Review posted live</div></li><li class="half_rhythm"><div>7 July 2023 (aes) Original submission</div></li></ul></div></div><div id="strc-hearing-loss.References"><h2 id="_strc-hearing-loss_References_">References</h2><div id="strc-hearing-loss.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.abbasi.2022.387">Abbasi
|
||
W, French
|
||
CE, Rockowitz
|
||
S, Kenna
|
||
MA, Eliot Shearer
|
||
A. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
|
||
Hum Genet.
|
||
2022;141:387-400.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/34811589" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34811589</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.achard.2023a.e241">Achard
|
||
S, Campion
|
||
M, Parodi
|
||
M, MacAskill
|
||
M, Hochet
|
||
B, Simon
|
||
F, Rouillon
|
||
I, Jonard
|
||
L, Serey-Gaut
|
||
M, Denoyelle
|
||
F, Loundon
|
||
N, Marlin
|
||
S. Recurrent benign paroxysmal positional vertigo in DFNB16 patients with biallelic STRC gene deletions.
|
||
Otol. Neurotol.
|
||
2023a;44:e241-5.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/36764706" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36764706</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.achard.2023b.127">Achard
|
||
S, Simon
|
||
F, Denoyelle
|
||
F, Marlin
|
||
S. Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.
|
||
Eur Ann Otorhinolaryngol Head Neck Dis.
|
||
2023b;140:127-9.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/36526540" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36526540</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.amr.2018.705">Amr
|
||
SS, Murphy
|
||
E, Duffy
|
||
E, Niazi
|
||
R, Balciuniene
|
||
J, Luo
|
||
M, Rehm
|
||
HL, Abou Tayoun
|
||
AN. Allele-specific droplet digital PCR combined with a next-generation sequencing-based algorithm for diagnostic copy number analysis in genes with high homology: proof of concept using stereocilin.
|
||
Clin Chem.
|
||
2018;64:705-14.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/29339441" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29339441</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.back.2019.e48">Back
|
||
D, Shehata-Dieler
|
||
W, Vona
|
||
B, Hofrichter
|
||
MAH, Schroeder
|
||
J, Haaf
|
||
T, Rahne
|
||
T, Hagen
|
||
R, Schraven
|
||
SP. Phenotypic characterization of DFNB16-associated hearing loss.
|
||
Otol. Neurotol.
|
||
2019;40:e48-55.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/30531641" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30531641</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF._ada.2019.3353">Čada
|
||
Z, Brožková
|
||
DS, Balatková
|
||
Z, Plevová
|
||
P, Rašková
|
||
D, Laštůvková
|
||
J, Černý
|
||
R, Bandúrová
|
||
V, Koucký
|
||
V, Hrubá
|
||
S, Komarc
|
||
M, Jenčík
|
||
J, Marková
|
||
SP, Plzák
|
||
J, Kluh
|
||
J, Seeman
|
||
P. Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
|
||
European archives of oto-rhino-laryngology.
|
||
2019;276:3353-8.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/31552524" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31552524</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.francey.2012.298">Francey
|
||
LJ, Conlin
|
||
LK, Kadesch
|
||
HE, Clark
|
||
D, Berrodin
|
||
D, Sun
|
||
Y, Glessner
|
||
J, Hakonarson
|
||
H, Jalas
|
||
C, Landau
|
||
C, Spinner
|
||
NB, Kenna
|
||
M, Sagi
|
||
M, Rehm
|
||
HL, Krantz
|
||
ID. Genome-wide SNP genotyping identifies the stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
|
||
Am J Med Genet A.
|
||
2012;158A:298-308.
|
||
[<a href="/pmc/articles/PMC3264741/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3264741</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22147502" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22147502</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.frykholm.2018.1871">Frykholm
|
||
C, Klar
|
||
J, Tomanovic
|
||
T, Ameur
|
||
A, Dahl
|
||
N. Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.
|
||
Eur J Hum Genet.
|
||
2018;26:1871-4.
|
||
[<a href="/pmc/articles/PMC6244415/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6244415</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30250054" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30250054</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.han.2021.707845">Han
|
||
S, Zhang
|
||
D, Guo
|
||
Y, Fu
|
||
Z, Guan
|
||
G. Prevalence and characteristics of STRC gene mutations (DFNB16): a systematic review and meta-analysis.
|
||
Front Genet.
|
||
2021;12:707845.
|
||
[<a href="/pmc/articles/PMC8491653/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8491653</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34621290" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34621290</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.j_nsson.2017.519">Jónsson
|
||
H, Sulem
|
||
P, Kehr
|
||
B, Kristmundsdottir
|
||
S, Zink
|
||
F, Hjartarson
|
||
E, Hardarson
|
||
MT, Hjorleifsson
|
||
KE, Eggertsson
|
||
HP, Gudjonsson
|
||
SA, Ward
|
||
LD, Arnadottir
|
||
GA, Helgason
|
||
EA, Helgason
|
||
H, Gylfason
|
||
A, Jonasdottir
|
||
A, Jonasdottir
|
||
A, Rafnar
|
||
T, Frigge
|
||
M, Stacey
|
||
SN, Th Magnusson
|
||
O, Thorsteinsdottir
|
||
U, Masson
|
||
G, Kong
|
||
A, Halldorsson
|
||
BV, Helgason
|
||
A, Gudbjartsson
|
||
DF, Stefansson
|
||
K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
|
||
Nature.
|
||
2017;549:519-22.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/28959963" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28959963</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.klimara.2022.2555">Klimara
|
||
MJ, Nishimura
|
||
C, Wang
|
||
D, Kolbe
|
||
DL, Schaefer
|
||
AM, Walls
|
||
WD, Frees
|
||
KL, Smith
|
||
RJH, Azaiez
|
||
H. De novo variants are a common cause of genetic hearing loss.
|
||
Genet Med.
|
||
2022;24:2555-67
|
||
[<a href="/pmc/articles/PMC9729384/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9729384</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36194208" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36194208</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.mandelker.2014.639">Mandelker
|
||
D, Amr
|
||
SS, Pugh
|
||
T, Gowrisankar
|
||
S, Shakbatyan
|
||
R, Duffy
|
||
E, Bowser
|
||
M, Harrion
|
||
B, Lafferty
|
||
K, Mahanta
|
||
L, Rehm
|
||
HL, Funke
|
||
BH. Comprehensive diagnostic testing for stereocilin an approach for analyzing medically important genes with high homology.
|
||
J Mol Diagn.
|
||
2014;16:639-47.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/25157971" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25157971</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.nishio.2022.634">Nishio
|
||
SY, Usami
|
||
SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
|
||
Sci Rep.
|
||
2022;12:634.
|
||
[<a href="/pmc/articles/PMC8755823/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8755823</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35022556" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35022556</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.perry.2023.2417">Perry
|
||
J, Redfield
|
||
S, Oza
|
||
A, Rouse
|
||
S, Stewart
|
||
C, Khela
|
||
H, Srinivasan
|
||
T, Albano
|
||
V, Shearer
|
||
E, Kenna
|
||
M. Exome sequencing expands the genetic diagnostic spectrum for pediatric hearing loss.
|
||
Laryngoscope.
|
||
2023;133:2417-24.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/36515421" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36515421</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.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.
|
||
Genet Med.
|
||
2015;17:405-24.
|
||
[<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.shearer.2014.37">Shearer
|
||
AE, Kolbe
|
||
DL, Azaiez
|
||
H, Sloan
|
||
CM, Frees
|
||
KL, Weaver
|
||
AE, Clark
|
||
ET, Nishimura
|
||
CJ, Black-Ziegelbein
|
||
EA, Smith
|
||
RJ. Copy number variants are a common cause of non-syndromic hearing loss.
|
||
Genome Med.
|
||
2014;6:37.
|
||
[<a href="/pmc/articles/PMC4067994/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4067994</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24963352" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24963352</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.shubinaoleinik.2021.eabi7629">Shubina-Oleinik
|
||
O, Nist-Lund
|
||
C, French
|
||
C, Rockowitz
|
||
S, Shearer
|
||
AE, Holt
|
||
JR. Duel-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.
|
||
Sci Adv.
|
||
2021;7:eabi7629.
|
||
[<a href="/pmc/articles/PMC8673757/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8673757</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34910522" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34910522</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.simi.2021.e2897">Simi
|
||
A, Perry
|
||
J, Schindler
|
||
E, Oza
|
||
A, Luo
|
||
M, Hartman Tm Krantz
|
||
ID, Germiller
|
||
JA, Kawai
|
||
K, Kenna
|
||
M. Audiologic phenotype and progression in pediatric STRC-related autosomal recessive hearing loss.
|
||
Laryngoscope.
|
||
2021;131:E2897-E2903.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/34111299" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34111299</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.sloanheggen.2016.441">Sloan-Heggen
|
||
CM, Bierer
|
||
AO, Shearer
|
||
AE, Kolbe
|
||
DL, Nishimura
|
||
CJ, Frees
|
||
KL, Ephraim
|
||
SS, Shibata
|
||
SB, Booth
|
||
KT, Campbell
|
||
CA, Ranum
|
||
PT, Weaver
|
||
AE, Black-Ziegelbein
|
||
EA, Wang
|
||
D, Azaiez
|
||
H, Smith
|
||
RJ. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
||
Hum Genet.
|
||
2016;135:441–50.
|
||
[<a href="/pmc/articles/PMC4796320/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4796320</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26969326" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26969326</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.stenson.2020.1197">Stenson
|
||
PD, Mort
|
||
M, Ball
|
||
EV, Chapman
|
||
M, Evans
|
||
K, Azevedo
|
||
L, Hayden
|
||
M, Heywood
|
||
S, Millar
|
||
DS, Phillips
|
||
AD, Cooper
|
||
DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
|
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Hum Genet.
|
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2020;139:1197-207.
|
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[<a href="/pmc/articles/PMC7497289/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7497289</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32596782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32596782</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="strc-hearing-loss.REF.yokota.2019.4408">Yokota
|
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Y, Moteki
|
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H, Nishio
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SY, Yamaguchi
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T, Wakui
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K, Ohyama
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K, Miyazaki
|
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H, Matsuoka
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R, Abe
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S, Kunakawa
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K, Takahashi
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M, Sakaguchi
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H, Uehara
|
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N, Ishino
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T, Kosho
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T, Fukushima
|
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Y, Usami
|
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SI. Frequency and clinical features of hearing loss caused by <em>STRC</em> deletions.
|
||
Sci Rep.
|
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2019;9:4408.
|
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[<a href="/pmc/articles/PMC6416315/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6416315</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30867468" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30867468</span></a>]</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK598310/?report=reader">PubReader</a></li><li><a href="/books/NBK598310/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK598310" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK598310" style="display:none" title="Cite this Page"><div class="bk_tt">Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. 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></div></div></li><li><a href="/books/NBK598310/pdf/Bookshelf_NBK598310.pdf">PDF version of this page</a> (509K)</li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this GeneReview</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#strc-hearing-loss.Summary" ref="log$=inpage&link_id=inpage">Summary</a></li><li><a href="#strc-hearing-loss.GeneReview_Scope" ref="log$=inpage&link_id=inpage"><i>GeneReview</i> Scope</a></li><li><a href="#strc-hearing-loss.Diagnosis" ref="log$=inpage&link_id=inpage">Diagnosis</a></li><li><a href="#strc-hearing-loss.Clinical_Characteristi" ref="log$=inpage&link_id=inpage">Clinical Characteristics</a></li><li><a href="#strc-hearing-loss.Genetically_Related_Al" ref="log$=inpage&link_id=inpage">Genetically Related (Allelic) Disorders</a></li><li><a href="#strc-hearing-loss.Differential_Diagnosis" ref="log$=inpage&link_id=inpage">Differential Diagnosis</a></li><li><a href="#strc-hearing-loss.Management" ref="log$=inpage&link_id=inpage">Management</a></li><li><a href="#strc-hearing-loss.Genetic_Counseling" ref="log$=inpage&link_id=inpage">Genetic Counseling</a></li><li><a href="#strc-hearing-loss.Resources" ref="log$=inpage&link_id=inpage">Resources</a></li><li><a href="#strc-hearing-loss.Molecular_Genetics" ref="log$=inpage&link_id=inpage">Molecular Genetics</a></li><li><a href="#strc-hearing-loss.Chapter_Notes" ref="log$=inpage&link_id=inpage">Chapter Notes</a></li><li><a href="#strc-hearing-loss.References" ref="log$=inpage&link_id=inpage">References</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Bulk Download</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/litarch/ca/84/" ref="pagearea=source-links&targetsite=external&targetcat=link&targettype=uri">Bulk download GeneReviews data from FTP</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>GeneReviews Links</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/n/gene/advanced/"><i>GeneReviews</i> Advanced Search</a></li><li><a href="/books/n/gene/glossary/"><i>GeneReviews</i> Glossary</a></li><li><a href="/books/n/gene/resource_mats/">Resource Materials</a> <span class="bk_hlight1">NEW FEATURE</span></li><li><a href="/books/n/gene/updates/">New in <i>GeneReviews</i></a></li><li><a href="/books/n/gene/authors/">Author List</a></li><li><a href="/books/n/gene/prospective_authors/">For Current/Prospective Authors</a></li><li><a href="/books/n/gene/GRpersonnel/"><i>GeneReviews</i> Personnel</a></li><li><a href="/books/n/gene/howto_linkin/">Download/Link to <i>GeneReviews</i></a></li><li><a href="/books/n/gene/contact_us/">Contact Us</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Tests in GTR by Gene</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=omim&DbFrom=books&Cmd=Link&LinkName=books_omim&IdsFromResult=5540268" ref="log$=recordlinks">OMIM</a><div class="brieflinkpop offscreen_noflow">Related OMIM records</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=5540268" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=5540268" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=5540268" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301449" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Smith RJH, Azaiez H, Booth K. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301780" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> CATSPER-Related Male Infertility – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> CATSPER-Related Male Infertility – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Hildebrand MS, Avenarius MR, Smith RJH. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301640" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SLC26A4-Related Sensorineural Hearing Loss.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SLC26A4-Related Sensorineural Hearing Loss.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Smith RJH, Azaiez H, Odell AM. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301656" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Adenosine Deaminase Deficiency.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Adenosine Deaminase Deficiency.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Hershfield M, Tarrant T. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301790" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Ataxia-Telangiectasia.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Ataxia-Telangiectasia.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Veenhuis S, van Os N, Weemaes C, Kamsteeg EJ, Willemsen M. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=38109326" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=38109326" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d7aa6a2f30673f7b2214e4">STRC-Related Autosomal Recessive Hearing Loss - GeneReviews®</a><div class="ralinkpop offscreen_noflow">STRC-Related Autosomal Recessive Hearing Loss - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d7aa6984f3725e594e80ea">Table B. [OMIM Entries for STRC-Related Autosomal Recessive Hearing Loss (View A...</a><div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for STRC-Related Autosomal Recessive Hearing Loss (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d7aa4f2f30673f7b219ce6">RecName: Full=Stereocilin; Flags: Precursor</a><div class="ralinkpop offscreen_noflow">RecName: Full=Stereocilin; Flags: Precursor<div class="brieflinkpopdesc">gi|47606114|sp|Q7RTU9.1|STRC_HUMAN</div></div><div class="tertiary">Protein</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d7aa4e67c23b31e0d39e6a">TPA_exp: Homo sapiens chromosome 15 map 15q15.3</a><div class="ralinkpop offscreen_noflow">TPA_exp: Homo sapiens chromosome 15 map 15q15.3<div class="brieflinkpopdesc">gi|23342596|tpg|BK000138.1|</div></div><div class="tertiary">Nucleotide</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d7aa4bcde49f3df7087a8e">STRCP1 stereocilin pseudogene 1 [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">STRCP1 stereocilin pseudogene 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:554225</div></div><div class="tertiary">Gene</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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