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<title>
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Entry
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- #148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
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- OMIM
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<span class="h4">#148350</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/148350"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2085&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2202" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/edaa154d-b7a2-4a6c-82d3-68507950b4fc/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111505" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/148350" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722203001<br />
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<strong>ORPHA:</strong> 2202<br />
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<strong>DO:</strong> 0111505<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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148350
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Gene/Locus <br /> MIM number
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<a href="/geneMap/13/15?start=-3&limit=10&highlight=15">
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13q12.11
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Keratoderma, palmoplantar, with deafness
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<span class="mim-font">
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<a href="/entry/148350"> 148350 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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GJB2
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<span class="mim-font">
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<a href="/entry/121011"> 121011 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/148350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/148350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> HEAD & NECK </strong>
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<em> Ears </em>
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- Hearing loss, high frequency, slowly progressive (onset in early childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835673</a>]</span><br />
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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<em> Skin </em>
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<span class="mim-font">
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- Palmoplantar hyperkeratosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L85.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L85.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Allelic to deafness, autosomal recessive 1, (<a href="/entry/220290">220290</a>), deafness, autosomal dominant 3, (<a href="/entry/601544">601544</a>), Vohwinkel syndrome, (<a href="/entry/124500">124500</a>), keratitis-ichthyosis-deafness syndrome, (<a href="/entry/148210">148210</a>), hystrix-like ichthyosis with deafness, (<a href="/entry/602540">602540</a>), Bart-Pumphrey syndrome, (<a href="/entry/149200">149200</a>)<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, <a href="/entry/121011#0015">121011.0015</a>)<br /> -
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Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, <a href="/entry/590080#0002">590080.0002</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that palmoplantar keratoderma with deafness is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; <a href="/entry/121011">121011</a>) on chromosome 13q12.</p>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Palmoplantar keratoderma with deafness is an autosomal dominant disorder characterized by keratoderma confined to the palms and soles, and variable progressive sensorineural hearing loss. Onset is in childhood. No other cutaneous or systemic abnormalities, including hypohidrosis or pseudo-ainhum, are present (<a href="#6" class="mim-tip-reference" title="Uyguner, O., Tukel, T., Baykal, C., Eris, H., Emiroglu, M., Hafiz, G., Ghanbari, A., Baserer, N., Yuksel-Apak, M., Wollnik, B. <strong>The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.</strong> Clin. Genet. 62: 306-309, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12372058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12372058</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620409.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12372058">Uyguner et al., 2002</a>, <a href="#1" class="mim-tip-reference" title="de Zwart-Storm, E. A., Hamm, H., Stoevesandt, J., Steijlen, P. M., Martin, P. E., van Geel, M., van Steensel, M. A. M. <strong>A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (Letter)</strong> J. Med. Genet. 45: 161-166, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17993581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17993581</a>] [<a href="https://doi.org/10.1136/jmg.2007.052332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17993581">de Zwart-Storm et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12372058+17993581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Sharland, M., Bleach, N. R., Goberdhan, P. D., Patton, M. A. <strong>Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.</strong> J. Med. Genet. 29: 50-52, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1532426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1532426</a>] [<a href="https://doi.org/10.1136/jmg.29.1.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1532426">Sharland et al. (1992)</a> reported a family that appeared to validate a syndrome of palmoplantar hyperkeratosis and sensorineural deafness as an autosomal dominant disorder. Male-to-male transmission was observed. Progressive, bilateral, high-frequency sensorineural hearing loss had its onset in early childhood. Progressive hyperkeratosis of the palms and soles, the only ectodermal feature, had its onset in mid-childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1532426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Verbov, J. <strong>Palmoplantar keratoderma, deafness and atopy. (Letter)</strong> Brit. J. Derm. 116: 881-882, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2956987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2956987</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04914.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2956987">Verbov (1987)</a> described a 3-generation pedigree of hereditary palmoplantar keratoderma with deafness. The father of the proband was incorrectly shown as being deaf in the 1987 publication due to misinformation regarding parentage. <a href="#2" class="mim-tip-reference" title="Fitzgerald, D. A., Verbov, J. L. <strong>Hereditary palmoplantar keratoderma with deafness.</strong> Brit. J. Derm. 134: 939-942, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8736341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8736341</a>]" pmid="8736341">Fitzgerald and Verbov (1996)</a> corrected the pedigree and provided follow-up on the affected individuals and subsequently born affected children. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2956987+8736341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M. <strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong> Nature 387: 80-83, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9139825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9139825</a>] [<a href="https://doi.org/10.1038/387080a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9139825">Kelsell et al. (1997)</a> studied the kindred reported by <a href="#7" class="mim-tip-reference" title="Verbov, J. <strong>Palmoplantar keratoderma, deafness and atopy. (Letter)</strong> Brit. J. Derm. 116: 881-882, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2956987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2956987</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04914.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2956987">Verbov (1987)</a> and <a href="#2" class="mim-tip-reference" title="Fitzgerald, D. A., Verbov, J. L. <strong>Hereditary palmoplantar keratoderma with deafness.</strong> Brit. J. Derm. 134: 939-942, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8736341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8736341</a>]" pmid="8736341">Fitzgerald and Verbov (1996)</a>. From a clinical reevaluation, they concluded that it was unlikely that the same mutation resulted in both palmoplantar keratoderma and deafness, since there were 3 individuals who had the skin disorder but not the profound hearing loss. Haplotype analysis suggested linkage of the skin disorder with microsatellite DNA markers located on 13q11-q12. Three disease loci had been localized to this area: autosomal dominant nonsyndromic deafness (DFNA3; <a href="/entry/601544">601544</a>), autosomal recessive nonsyndromic deafness (DFNB1; <a href="/entry/220290">220290</a>), and the autosomal dominant skin disease Clouston hidrotic ectodermal dysplasia (<a href="/entry/129500">129500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2956987+9139825+8736341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p>The transmission pattern of palmoplantar hyperkeratosis and sensorineural deafness in the family reported by <a href="#5" class="mim-tip-reference" title="Sharland, M., Bleach, N. R., Goberdhan, P. D., Patton, M. A. <strong>Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.</strong> J. Med. Genet. 29: 50-52, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1532426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1532426</a>] [<a href="https://doi.org/10.1136/jmg.29.1.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1532426">Sharland et al. (1992)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1532426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p><a href="#3" class="mim-tip-reference" title="Heathcote, K., Syrris, P., Carter, N. D., Patton, M. A. <strong>A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)</strong> J. Med. Genet. 37: 50-51, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10633135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10633135</a>] [<a href="https://doi.org/10.1136/jmg.37.1.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10633135">Heathcote et al. (2000)</a> identified a missense mutation in the GJB2 gene (<a href="/entry/121011#0015">121011.0015</a>) segregating with the phenotype in the family reported by <a href="#5" class="mim-tip-reference" title="Sharland, M., Bleach, N. R., Goberdhan, P. D., Patton, M. A. <strong>Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.</strong> J. Med. Genet. 29: 50-52, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1532426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1532426</a>] [<a href="https://doi.org/10.1136/jmg.29.1.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1532426">Sharland et al. (1992)</a> with deafness and palmoplantar keratoderma. <a href="#3" class="mim-tip-reference" title="Heathcote, K., Syrris, P., Carter, N. D., Patton, M. A. <strong>A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)</strong> J. Med. Genet. 37: 50-51, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10633135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10633135</a>] [<a href="https://doi.org/10.1136/jmg.37.1.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10633135">Heathcote et al. (2000)</a> proposed that the mutation, which lies in a highly conserved region of the gene, may disrupt the structure of an extracellular loop and, consequently, gap junction formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1532426+10633135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-generation Turkish family segregating autosomal dominant deafness and palmoplantar keratoderma, <a href="#6" class="mim-tip-reference" title="Uyguner, O., Tukel, T., Baykal, C., Eris, H., Emiroglu, M., Hafiz, G., Ghanbari, A., Baserer, N., Yuksel-Apak, M., Wollnik, B. <strong>The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.</strong> Clin. Genet. 62: 306-309, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12372058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12372058</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620409.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12372058">Uyguner et al. (2002)</a> identified a missense mutation in the GJB2 gene (<a href="/entry/121011#0026">121011.0026</a>). The age of onset and progression of hearing loss were variable among affected family members, but they all had more severe impairment at higher hearing frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12372058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 40-year-old German woman, her 9-year-old daughter, and her 2-year-old son with focal palmoplantar keratoderma and severe progressive sensorineural deafness, <a href="#1" class="mim-tip-reference" title="de Zwart-Storm, E. A., Hamm, H., Stoevesandt, J., Steijlen, P. M., Martin, P. E., van Geel, M., van Steensel, M. A. M. <strong>A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (Letter)</strong> J. Med. Genet. 45: 161-166, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17993581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17993581</a>] [<a href="https://doi.org/10.1136/jmg.2007.052332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17993581">de Zwart-Storm et al. (2008)</a> identified heterozygosity for a mutation in the GJB2 gene (H73R; <a href="/entry/121011#0038">121011.0038</a>). The affected sibs had much less pronounced skin alterations than their mother. The mutation was not found in unaffected family members or in 100 unrelated German controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17993581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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de Zwart-Storm, E. A., Hamm, H., Stoevesandt, J., Steijlen, P. M., Martin, P. E., van Geel, M., van Steensel, M. A. M.
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<strong>A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (Letter)</strong>
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J. Med. Genet. 45: 161-166, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17993581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17993581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17993581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2007.052332" target="_blank">Full Text</a>]
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Fitzgerald, D. A., Verbov, J. L.
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<strong>Hereditary palmoplantar keratoderma with deafness.</strong>
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Brit. J. Derm. 134: 939-942, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8736341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8736341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8736341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Heathcote, K., Syrris, P., Carter, N. D., Patton, M. A.
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<strong>A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)</strong>
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J. Med. Genet. 37: 50-51, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10633135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10633135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10633135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.
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<strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong>
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Nature 387: 80-83, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9139825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9139825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9139825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/387080a0" target="_blank">Full Text</a>]
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Sharland, M., Bleach, N. R., Goberdhan, P. D., Patton, M. A.
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<strong>Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.</strong>
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J. Med. Genet. 29: 50-52, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1532426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1532426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1532426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Uyguner, O., Tukel, T., Baykal, C., Eris, H., Emiroglu, M., Hafiz, G., Ghanbari, A., Baserer, N., Yuksel-Apak, M., Wollnik, B.
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<strong>The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.</strong>
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Clin. Genet. 62: 306-309, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12372058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12372058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12372058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2002.620409.x" target="_blank">Full Text</a>]
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Verbov, J.
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<strong>Palmoplantar keratoderma, deafness and atopy. (Letter)</strong>
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Brit. J. Derm. 116: 881-882, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2956987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2956987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2956987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04914.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/27/2012
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Marla J. F. O'Neill - updated : 11/12/2008<br>Marla J. F. O'Neill - updated : 5/25/2006<br>Gary A. Bellus - updated : 4/9/2001<br>Michael J. Wright - updated : 6/20/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 4/30/1997
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/2/1987
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alopez : 01/27/2025
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alopez : 01/27/2025<br>carol : 06/01/2016<br>carol : 4/27/2012<br>wwang : 11/13/2008<br>terry : 11/12/2008<br>joanna : 10/8/2008<br>carol : 6/1/2006<br>terry : 5/25/2006<br>alopez : 4/13/2001<br>cwells : 4/12/2001<br>cwells : 4/9/2001<br>alopez : 6/20/2000<br>mgross : 4/2/1999<br>mgross : 3/30/1999<br>mgross : 3/30/1999<br>terry : 3/24/1999<br>alopez : 7/2/1998<br>mark : 5/5/1997<br>mark : 5/5/1997<br>alopez : 4/30/1997<br>terry : 4/29/1997<br>mark : 7/11/1996<br>terry : 6/17/1996<br>mimadm : 11/5/1994<br>carol : 5/16/1994<br>carol : 2/9/1993<br>carol : 6/1/1992<br>carol : 4/3/1992<br>supermim : 3/16/1992
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<strong>#</strong> 148350
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KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
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<strong>SNOMEDCT:</strong> 722203001;
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<strong>ORPHA:</strong> 2202;
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<strong>DO:</strong> 0111505;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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13q12.11
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Keratoderma, palmoplantar, with deafness
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148350
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Autosomal dominant
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<span class="mim-font">
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3
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GJB2
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121011
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that palmoplantar keratoderma with deafness is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.</p>
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<strong>Description</strong>
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<p>Palmoplantar keratoderma with deafness is an autosomal dominant disorder characterized by keratoderma confined to the palms and soles, and variable progressive sensorineural hearing loss. Onset is in childhood. No other cutaneous or systemic abnormalities, including hypohidrosis or pseudo-ainhum, are present (Uyguner et al., 2002, de Zwart-Storm et al., 2008). </p>
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<strong>Clinical Features</strong>
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<p>Sharland et al. (1992) reported a family that appeared to validate a syndrome of palmoplantar hyperkeratosis and sensorineural deafness as an autosomal dominant disorder. Male-to-male transmission was observed. Progressive, bilateral, high-frequency sensorineural hearing loss had its onset in early childhood. Progressive hyperkeratosis of the palms and soles, the only ectodermal feature, had its onset in mid-childhood. </p><p>Verbov (1987) described a 3-generation pedigree of hereditary palmoplantar keratoderma with deafness. The father of the proband was incorrectly shown as being deaf in the 1987 publication due to misinformation regarding parentage. Fitzgerald and Verbov (1996) corrected the pedigree and provided follow-up on the affected individuals and subsequently born affected children. </p><p>Kelsell et al. (1997) studied the kindred reported by Verbov (1987) and Fitzgerald and Verbov (1996). From a clinical reevaluation, they concluded that it was unlikely that the same mutation resulted in both palmoplantar keratoderma and deafness, since there were 3 individuals who had the skin disorder but not the profound hearing loss. Haplotype analysis suggested linkage of the skin disorder with microsatellite DNA markers located on 13q11-q12. Three disease loci had been localized to this area: autosomal dominant nonsyndromic deafness (DFNA3; 601544), autosomal recessive nonsyndromic deafness (DFNB1; 220290), and the autosomal dominant skin disease Clouston hidrotic ectodermal dysplasia (129500). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of palmoplantar hyperkeratosis and sensorineural deafness in the family reported by Sharland et al. (1992) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>Heathcote et al. (2000) identified a missense mutation in the GJB2 gene (121011.0015) segregating with the phenotype in the family reported by Sharland et al. (1992) with deafness and palmoplantar keratoderma. Heathcote et al. (2000) proposed that the mutation, which lies in a highly conserved region of the gene, may disrupt the structure of an extracellular loop and, consequently, gap junction formation. </p><p>In a 4-generation Turkish family segregating autosomal dominant deafness and palmoplantar keratoderma, Uyguner et al. (2002) identified a missense mutation in the GJB2 gene (121011.0026). The age of onset and progression of hearing loss were variable among affected family members, but they all had more severe impairment at higher hearing frequencies. </p><p>In a 40-year-old German woman, her 9-year-old daughter, and her 2-year-old son with focal palmoplantar keratoderma and severe progressive sensorineural deafness, de Zwart-Storm et al. (2008) identified heterozygosity for a mutation in the GJB2 gene (H73R; 121011.0038). The affected sibs had much less pronounced skin alterations than their mother. The mutation was not found in unaffected family members or in 100 unrelated German controls. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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de Zwart-Storm, E. A., Hamm, H., Stoevesandt, J., Steijlen, P. M., Martin, P. E., van Geel, M., van Steensel, M. A. M.
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<strong>A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (Letter)</strong>
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J. Med. Genet. 45: 161-166, 2008.
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[PubMed: 17993581]
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[Full Text: https://doi.org/10.1136/jmg.2007.052332]
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<p class="mim-text-font">
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Fitzgerald, D. A., Verbov, J. L.
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<strong>Hereditary palmoplantar keratoderma with deafness.</strong>
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Brit. J. Derm. 134: 939-942, 1996.
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[PubMed: 8736341]
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<p class="mim-text-font">
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Heathcote, K., Syrris, P., Carter, N. D., Patton, M. A.
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<strong>A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)</strong>
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J. Med. Genet. 37: 50-51, 2000.
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[PubMed: 10633135]
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[Full Text: https://doi.org/10.1136/jmg.37.1.50]
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<p class="mim-text-font">
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Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.
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<strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong>
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Nature 387: 80-83, 1997.
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[PubMed: 9139825]
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[Full Text: https://doi.org/10.1038/387080a0]
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<li>
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<p class="mim-text-font">
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Sharland, M., Bleach, N. R., Goberdhan, P. D., Patton, M. A.
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<strong>Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.</strong>
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J. Med. Genet. 29: 50-52, 1992.
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[PubMed: 1532426]
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[Full Text: https://doi.org/10.1136/jmg.29.1.50]
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Uyguner, O., Tukel, T., Baykal, C., Eris, H., Emiroglu, M., Hafiz, G., Ghanbari, A., Baserer, N., Yuksel-Apak, M., Wollnik, B.
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<strong>The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.</strong>
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Clin. Genet. 62: 306-309, 2002.
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[PubMed: 12372058]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620409.x]
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<p class="mim-text-font">
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Verbov, J.
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<strong>Palmoplantar keratoderma, deafness and atopy. (Letter)</strong>
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Brit. J. Derm. 116: 881-882, 1987.
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[PubMed: 2956987]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1987.tb04914.x]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/27/2012<br>Marla J. F. O'Neill - updated : 11/12/2008<br>Marla J. F. O'Neill - updated : 5/25/2006<br>Gary A. Bellus - updated : 4/9/2001<br>Michael J. Wright - updated : 6/20/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 4/30/1997
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/2/1987
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 01/27/2025<br>alopez : 01/27/2025<br>carol : 06/01/2016<br>carol : 4/27/2012<br>wwang : 11/13/2008<br>terry : 11/12/2008<br>joanna : 10/8/2008<br>carol : 6/1/2006<br>terry : 5/25/2006<br>alopez : 4/13/2001<br>cwells : 4/12/2001<br>cwells : 4/9/2001<br>alopez : 6/20/2000<br>mgross : 4/2/1999<br>mgross : 3/30/1999<br>mgross : 3/30/1999<br>terry : 3/24/1999<br>alopez : 7/2/1998<br>mark : 5/5/1997<br>mark : 5/5/1997<br>alopez : 4/30/1997<br>terry : 4/29/1997<br>mark : 7/11/1996<br>terry : 6/17/1996<br>mimadm : 11/5/1994<br>carol : 5/16/1994<br>carol : 2/9/1993<br>carol : 6/1/1992<br>carol : 4/3/1992<br>supermim : 3/16/1992
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