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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Deafness - Genes and Disease - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="Genes and Disease [Internet]">
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<meta name="citation_title" content="Deafness">
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<meta name="citation_date" content="2011/01/31">
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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK22204_"><span class="title" itemprop="name">Deafness</span></h1><p class="fm-aai"><a href="#_NBK22204_pubdet_">Publication Details</a></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>Hearing loss is extremely common and can present at any time from infancy to old age. About 1 in 1000 infants has profound hearing impairment, with half thought to be of genetic origin. Many deafness genes exist, but the most common cause of hearing loss in American and European populations is a mutation in the <i>connexin 26</i> (<i>Cx26</i>) gene. <i>Cx26</i> has a carrier rate of 3%, similar to that for cystic fibrosis, and it causes about 20% of childhood deafness.</p><p>Mutations in <i>Cx26</i> cause congenital syndromic and nonsyndromic deafness—that is, the deafness is not accompanied by other symptoms, such as blindness. <i>Cx26</i> is located on chromosome 13q11-12 and codes for a gap junction protein called connexin 26. Gap junctions are plasma membrane channels that allow the movement of small molecules and ions between adjacent cells. Gap junctions of the inner ear may play a role in maintaining potassium homeostasis, which is important for inner-ear function and, thus, hearing. It has been proposed that mutations in <i>Cx26</i> may disrupt potassium circulation and result in deafness.</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figconnexinFig" co-legend-rid="figlgndconnexinFig"><a href="/books/NBK22204/figure/connexinFig/?report=objectonly" target="object" title="Connexin 26" class="img_link icnblk_img figpopup" rid-figpopup="figconnexinFig" rid-ob="figobconnexinFig"><img class="small-thumb" src="/books/NBK22204/bin/connexin.gif" src-large="/books/NBK22204/bin/connexin.jpg" alt="Connexin 26. Connexin 26 (GJB2) is one of the main proteins involved in potassium (K+) homeostasis in the cochlea of the inner ear." /></a><div class="icnblk_cntnt" id="figlgndconnexinFig"><h4 id="connexinFig"><a href="/books/NBK22204/figure/connexinFig/?report=objectonly" target="object" rid-ob="figobconnexinFig">Connexin 26</a></h4><p class="float-caption no_bottom_margin">Connexin 26 (GJB2) is one of the main proteins involved in potassium (K+) homeostasis in the cochlea of the inner ear. It is found in the supporting cells, fibrocytes of the spiral ligament and in cells of the spiral limbus Adapted from Steel, K.P. (1999) <a href="/books/NBK22204/figure/connexinFig/?report=objectonly" target="object" rid-ob="figobconnexinFig">(more...)</a></p></div></div><p>The discovery that <i>Cx26</i> mutations are a cause of congenital hearing loss can help in the early diagnosis of hearing impairment. Early identification and management of deafness is important for the development of language and social skills. </p><div id="deafness.disease-categories"><h2 id="_deafness_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A32/?report=reader">See other Ear, Nose, and Throat Diseases</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A75/?report=reader">See other Diseases of the Nervous System</a>
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</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK22204_pubdet_">Publication Details</h2><h3>Publication History</h3><p class="small">Last Update: <span itemprop="dateModified">January 31, 2011</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div></div><h3>Publisher</h3><p><a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>, Bethesda (MD)</p><h3>NLM Citation</h3><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Deafness. [Updated 2011 Jan 31].<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gnd/cysticfibrosis/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gnd/diabetestype1/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="fig" id="figobconnexinFig"><div id="connexinFig" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK22204/bin/connexin.jpg" alt="Connexin 26. Connexin 26 (GJB2) is one of the main proteins involved in potassium (K+) homeostasis in the cochlea of the inner ear." /></div><h3><span class="label">Connexin 26</span></h3><div class="caption"><p>Connexin 26 (GJB2) is one of the main proteins involved in potassium (K+) homeostasis in the cochlea of the inner ear. It is found in the supporting cells, fibrocytes of the spiral ligament and in cells of the spiral limbus</p><p>Adapted from Steel, K.P. (1999) <i>Science</i> 285, 1363-1364, with permission.</p></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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