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Entry
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- #580000 - DEAFNESS, AMINOGLYCOSIDE-INDUCED
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- OMIM
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<p>
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<span class="h4">#580000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/580000"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</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="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DEAFNESS, AMINOGLYCOSIDE-INDUCED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12050&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="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1422/" title="Nonsyndromic Hearing Loss and Deafness, Mitochondrial" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Nonsyndromic Hearing Loss …</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1434/" title="Genetic Hearing Loss Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Genetic Hearing Loss Overv…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/8129" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=580000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90641" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111734" 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/580000" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0111734" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 90641<br />
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<strong>DO:</strong> 0111734<br />
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">ICD+</a>
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<div>
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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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580000
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</span>
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</span>
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</div>
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</div>
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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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DEAFNESS, AMINOGLYCOSIDE-INDUCED
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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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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DEAFNESS, STREPTOMYCIN-INDUCED<br />
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STREPTOMYCIN OTOTOXICITY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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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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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/22/388?start=-3&limit=10&highlight=388">
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22q13.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Deafness, mitochondrial, modifier of}
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/580000"> 580000 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Mitochondrial">Mi</abbr>
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<span class="mim-font">
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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TRMU
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610230"> 610230 </a>
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<a href="/clinicalSynopsis/580000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/580000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/580000" 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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- Mitochondrial <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312239001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312239001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75056005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75056005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026237</a>, <a href="https://bioportal.bioontology.org/search?q=C0887941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0887941</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001427</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001427</a>]</span><br />
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<strong> HEAD & NECK </strong>
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<em> Ears </em>
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- Hearing loss, aminoglycoside-induced <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4023100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4023100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011975</a>]</span><br />
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<strong> METABOLIC FEATURES </strong>
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- Streptomycin ototoxicity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838854</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the mitochondrial 12S rRNA gene (MTRNR1, <a href="/entry/561000#0001">561000.0001</a>)<br /> -
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Caused by mutation in the mitochondrial cytochrome c oxidase I gene (MTCO1, <a href="/entry/516030#0001">516030.0001</a>)<br /> -
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Caused by mutation in the mitochondrial tRNA-ser 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-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 aminoglycoside-induced deafness is associated with mutations in at least 2 mitochondrial-encoded genes, including MTRNR1 (<a href="/entry/561000">561000</a>) and MTCO1 (<a href="/entry/516030">516030</a>).</p>
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<strong>Description</strong>
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<p>The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (<a href="#1" class="mim-tip-reference" title="Akiyoshoi, M., Yano, S., Nakada, H., Sato, K., Shoji, T. <strong>Study on damage of the vestibular organs due to aminoglycoside antibiotics by means of supravital reduction of nitro-BT.</strong> Ear Res. Japan 7: 98-100, 1976."None>Akiyoshoi et al., 1976</a>). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.</p>
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<strong>Inheritance</strong>
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<p>Familial occurrence of streptomycin hearing loss, often with seemingly modest dosage of the antibiotic, was reported by <a href="#5" class="mim-tip-reference" title="Johnsonbaugh, R. E., Drexel, H. G., Light, I. J., Sutherland, J. M. <strong>Familial occurrence of drug-induced hearing loss.</strong> Am. J. Dis. Child. 127: 245-247, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810278</a>] [<a href="https://doi.org/10.1001/archpedi.1974.02110210095014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4810278">Johnsonbaugh et al. (1974)</a>, <a href="#7" class="mim-tip-reference" title="Podvinec, S., Stefanovic, P. <strong>Surdite par la streptomycine et predisposition familiale.</strong> J. Franc. Otorhinolaryng. 15: 61-67, 1966."None>Podvinec and Stefanovic (1966)</a>, <a href="#9" class="mim-tip-reference" title="Prazic, M., Salaj, B. <strong>Ototoxicity with children caused by streptomycin.</strong> Audiology 14: 173-176, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1131123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1131123</a>] [<a href="https://doi.org/10.3109/00206097509071734" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1131123">Prazic and Salaj (1975)</a>, and <a href="#11" class="mim-tip-reference" title="Tsuiki, T., Murai, S. <strong>Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea.</strong> Audiology 10: 315-322, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4131355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4131355</a>] [<a href="https://doi.org/10.3109/00206097109072568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4131355">Tsuiki and Murai (1971)</a>. The cases of <a href="#5" class="mim-tip-reference" title="Johnsonbaugh, R. E., Drexel, H. G., Light, I. J., Sutherland, J. M. <strong>Familial occurrence of drug-induced hearing loss.</strong> Am. J. Dis. Child. 127: 245-247, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810278</a>] [<a href="https://doi.org/10.1001/archpedi.1974.02110210095014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4810278">Johnsonbaugh et al. (1974)</a> involved mother and son. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1131123+4131355+4810278" 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="#12" class="mim-tip-reference" title="Viljoen, D. L., Sellars, S. L., Beighton, P. <strong>Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?</strong> J. Med. Genet. 20: 357-360, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6644766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6644766</a>] [<a href="https://doi.org/10.1136/jmg.20.5.357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6644766">Viljoen et al. (1983)</a> described 8 persons with streptomycin ototoxicity in a large kindred of mixed ancestry from a remote rural area of South Africa. In each, severe permanent perceptive hearing loss developed during antituberculous therapy with streptomycin sulfate in conventional doses. The authors favored autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6644766" 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="#2" class="mim-tip-reference" title="Higashi, K. <strong>Unique inheritance of streptomycin-induced deafness.</strong> Clin. Genet. 35: 433-436, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2736791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2736791</a>]" pmid="2736791">Higashi (1989)</a> reviewed published pedigrees in which 2 or more members had streptomycin-induced hearing loss and concluded that ordinary mendelian inheritance could not account for the findings. The disorder seemed to be transmitted almost exclusively through females. In only 2 of 28 families were there instances of affected father and children. <a href="#2" class="mim-tip-reference" title="Higashi, K. <strong>Unique inheritance of streptomycin-induced deafness.</strong> Clin. Genet. 35: 433-436, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2736791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2736791</a>]" pmid="2736791">Higashi (1989)</a> favored mitochondrial inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2736791" 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="#3" class="mim-tip-reference" title="Hu, D.-N., Qui, W.-Q., Wu, B.-T., Fang, L.-Z., Zhou, F., Gu, Y.-P., Zhang, Q.-H., Yan, J.-H., Ding, Y.-Q., Wong, H. <strong>Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.</strong> J. Med. Genet. 28: 79-83, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2002491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2002491</a>] [<a href="https://doi.org/10.1136/jmg.28.2.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2002491">Hu et al. (1991)</a> analyzed 36 pedigrees in 1 district in Shanghai and showed that susceptibility to antibiotic ototoxicity was transmitted by females exclusively. An analysis of 18 other published pedigrees confirmed this conclusion, indicating that this disorder is mitochondrially determined. This situation is comparable to that in familial chloramphenicol toxicity (<a href="/entry/515000">515000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2002491" 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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<strong>Molecular Genetics</strong>
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<p>The mitochondrial ribosome in the cochlea is the most likely target of aminoglycoside ototoxicity, since the 'natural target' of aminoglycosides is the evolutionarily related bacterial ribosome. In bacterial studies, regions of the small ribosomal RNA appear to be important in translational fidelity. Thus, the mitochondrial rRNA genes, and especially the 12S rRNA gene (MTRNR1; <a href="/entry/561000">561000</a>), were prime candidates for the site of the mtDNA mutation in maternally inherited aminoglycoside-induced deafness. In affected members of 3 families with maternally inherited aminoglycoside-induced deafness and in a large Israeli-Arab pedigree with possible combined autosomal and mitochondrial inheritance (see <a href="/entry/221745">221745</a>), <a href="#10" class="mim-tip-reference" title="Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., Fischel-Ghodsian, N. <strong>Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.</strong> Nature Genet. 4: 289-294, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689389</a>] [<a href="https://doi.org/10.1038/ng0793-289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7689389">Prezant et al. (1993)</a> identified a mutation in the 12S rRNA gene (1555A-G; <a href="/entry/561000#0001">561000.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689389" 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="#13" class="mim-tip-reference" title="Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., Greinwald, J. H., Han, D., Zhai, S., Young, W.-Y., Guan, M.-X. <strong>Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA-Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.</strong> Am. J. Med. Genet. 138A: 133-140, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16152638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.30952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16152638">Yuan et al. (2005)</a> identified cosegregation of a mutation in the MTCO1 gene (7444G-A; <a href="/entry/516030#0001">516030.0001</a>) and a 1555A-G mutation in the MTRNR1 gene in 9 affected members of a 3-generation Chinese family with aminoglycoside-induced sensorineural hearing loss. One additional family member with both mutations, who had a history of exposure to noise but not to aminoglycoside, exhibited mild hearing impairment. The dose and age at the time of drug administration seemed to be correlated with the severity of the hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152638" 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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<p><a href="#6" class="mim-tip-reference" title="Kalinec, G. M., Fernandez-Zapico, M. E., Urrutia, R., Esteban-Cruciani, N., Chen. S., Kalinec, F. <strong>Pivotal role of harakiri in the induction and prevention of gentamicin-induced hearing loss.</strong> Proc. Nat. Acad. Sci. 102: 16019-16024, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16239342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16239342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16239342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508053102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16239342">Kalinec et al. (2005)</a> demonstrated that supplementation of pregnant guinea pigs with L-carnitine prevented neonatal mortality and gentamicin-induced sensorineural hearing loss in their offspring. Experiments with auditory cell lines showed that gentamicin-induced toxicity was mediated by activation of the MAPK (<a href="/entry/176948">176948</a>) signaling pathway through upregulation of harakiri (HRK; <a href="/entry/603447">603447</a>). L-carnitine prevented gentamicin-induced upregulation of Hrk and apoptosis via JNK1 (MAPK8; <a href="/entry/601158">601158</a>). Studies with small interfering RNA (siRNA) showed that Hrk upregulation was necessary for gentamicin-induced apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16239342" 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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<a href="#Jaber1992" class="mim-tip-reference" title="Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H.-Y., Wang, S.-J., Rotter, J. I. <strong>Sensorineural deafness inherited as a tissue specific mitochondrial disorder.</strong> J. Med. Genet. 29: 86-90, 1992.">Jaber et al. (1992)</a>; <a href="#Prazic1964" class="mim-tip-reference" title="Prazic, M., Salaj, B., Subotic, R. <strong>Familial sensitivity to streptomycin.</strong> J. Laryng. Otol. 78: 1037-1043, 1964.">Prazic et al. (1964)</a>
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Akiyoshoi, M., Yano, S., Nakada, H., Sato, K., Shoji, T.
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<strong>Study on damage of the vestibular organs due to aminoglycoside antibiotics by means of supravital reduction of nitro-BT.</strong>
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Ear Res. Japan 7: 98-100, 1976.
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Higashi, K.
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<strong>Unique inheritance of streptomycin-induced deafness.</strong>
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Clin. Genet. 35: 433-436, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2736791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2736791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2736791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hu, D.-N., Qui, W.-Q., Wu, B.-T., Fang, L.-Z., Zhou, F., Gu, Y.-P., Zhang, Q.-H., Yan, J.-H., Ding, Y.-Q., Wong, H.
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<strong>Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.</strong>
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J. Med. Genet. 28: 79-83, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2002491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2002491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2002491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H.-Y., Wang, S.-J., Rotter, J. I.
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<strong>Sensorineural deafness inherited as a tissue specific mitochondrial disorder.</strong>
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J. Med. Genet. 29: 86-90, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1613771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1613771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1613771" 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.29.2.86" target="_blank">Full Text</a>]
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Johnsonbaugh, R. E., Drexel, H. G., Light, I. J., Sutherland, J. M.
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<strong>Familial occurrence of drug-induced hearing loss.</strong>
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Am. J. Dis. Child. 127: 245-247, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4810278" 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/10.1001/archpedi.1974.02110210095014" target="_blank">Full Text</a>]
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Kalinec, G. M., Fernandez-Zapico, M. E., Urrutia, R., Esteban-Cruciani, N., Chen. S., Kalinec, F.
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<strong>Pivotal role of harakiri in the induction and prevention of gentamicin-induced hearing loss.</strong>
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Proc. Nat. Acad. Sci. 102: 16019-16024, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16239342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16239342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16239342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16239342" 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/10.1073/pnas.0508053102" target="_blank">Full Text</a>]
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Podvinec, S., Stefanovic, P.
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<strong>Surdite par la streptomycine et predisposition familiale.</strong>
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J. Franc. Otorhinolaryng. 15: 61-67, 1966.
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Prazic, M., Salaj, B., Subotic, R.
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<strong>Familial sensitivity to streptomycin.</strong>
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J. Laryng. Otol. 78: 1037-1043, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14222845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14222845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14222845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Prazic, M., Salaj, B.
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Audiology 14: 173-176, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1131123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1131123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1131123" 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/10.3109/00206097509071734" target="_blank">Full Text</a>]
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Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., Fischel-Ghodsian, N.
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<strong>Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.</strong>
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Nature Genet. 4: 289-294, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689389" 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/ng0793-289" target="_blank">Full Text</a>]
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Tsuiki, T., Murai, S.
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<strong>Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea.</strong>
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Audiology 10: 315-322, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4131355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4131355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4131355" 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/10.3109/00206097109072568" target="_blank">Full Text</a>]
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Viljoen, D. L., Sellars, S. L., Beighton, P.
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<strong>Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?</strong>
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J. Med. Genet. 20: 357-360, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6644766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6644766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6644766" 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.20.5.357" target="_blank">Full Text</a>]
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<a id="Yuan2005" class="mim-anchor"></a>
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Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., Greinwald, J. H., Han, D., Zhai, S., Young, W.-Y., Guan, M.-X.
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<strong>Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA-Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.</strong>
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Am. J. Med. Genet. 138A: 133-140, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16152638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152638" 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/10.1002/ajmg.a.30952" 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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Cassandra L. Kniffin - updated : 6/11/2007
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/25/2005
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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 : 9/24/1992
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carol : 03/04/2022
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carol : 04/13/2010<br>terry : 8/26/2008<br>wwang : 7/9/2007<br>ckniffin : 6/11/2007<br>wwang : 11/8/2005<br>ckniffin : 10/25/2005<br>carol : 10/14/1993<br>carol : 9/23/1993<br>carol : 6/15/1993<br>carol : 3/2/1993<br>carol : 2/4/1993<br>carol : 9/24/1992
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<span class="mim-font">
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<strong>#</strong> 580000
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<h3>
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DEAFNESS, AMINOGLYCOSIDE-INDUCED
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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DEAFNESS, STREPTOMYCIN-INDUCED<br />
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STREPTOMYCIN OTOTOXICITY
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<strong>ORPHA:</strong> 90641;
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<strong>DO:</strong> 0111734;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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<th>
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Inheritance
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<th>
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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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<span class="mim-font">
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22q13.31
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<span class="mim-font">
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{Deafness, mitochondrial, modifier of}
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</td>
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<td>
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<span class="mim-font">
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580000
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<span class="mim-font">
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Mitochondrial
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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TRMU
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<td>
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<span class="mim-font">
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610230
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</table>
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because aminoglycoside-induced deafness is associated with mutations in at least 2 mitochondrial-encoded genes, including MTRNR1 (561000) and MTCO1 (516030).</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.</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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</span>
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</h4>
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<span class="mim-text-font">
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<p>Familial occurrence of streptomycin hearing loss, often with seemingly modest dosage of the antibiotic, was reported by Johnsonbaugh et al. (1974), Podvinec and Stefanovic (1966), Prazic and Salaj (1975), and Tsuiki and Murai (1971). The cases of Johnsonbaugh et al. (1974) involved mother and son. </p><p>Viljoen et al. (1983) described 8 persons with streptomycin ototoxicity in a large kindred of mixed ancestry from a remote rural area of South Africa. In each, severe permanent perceptive hearing loss developed during antituberculous therapy with streptomycin sulfate in conventional doses. The authors favored autosomal dominant inheritance. </p><p>Higashi (1989) reviewed published pedigrees in which 2 or more members had streptomycin-induced hearing loss and concluded that ordinary mendelian inheritance could not account for the findings. The disorder seemed to be transmitted almost exclusively through females. In only 2 of 28 families were there instances of affected father and children. Higashi (1989) favored mitochondrial inheritance. </p><p>Hu et al. (1991) analyzed 36 pedigrees in 1 district in Shanghai and showed that susceptibility to antibiotic ototoxicity was transmitted by females exclusively. An analysis of 18 other published pedigrees confirmed this conclusion, indicating that this disorder is mitochondrially determined. This situation is comparable to that in familial chloramphenicol toxicity (515000). </p>
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<div>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>The mitochondrial ribosome in the cochlea is the most likely target of aminoglycoside ototoxicity, since the 'natural target' of aminoglycosides is the evolutionarily related bacterial ribosome. In bacterial studies, regions of the small ribosomal RNA appear to be important in translational fidelity. Thus, the mitochondrial rRNA genes, and especially the 12S rRNA gene (MTRNR1; 561000), were prime candidates for the site of the mtDNA mutation in maternally inherited aminoglycoside-induced deafness. In affected members of 3 families with maternally inherited aminoglycoside-induced deafness and in a large Israeli-Arab pedigree with possible combined autosomal and mitochondrial inheritance (see 221745), Prezant et al. (1993) identified a mutation in the 12S rRNA gene (1555A-G; 561000.0001). </p><p>Yuan et al. (2005) identified cosegregation of a mutation in the MTCO1 gene (7444G-A; 516030.0001) and a 1555A-G mutation in the MTRNR1 gene in 9 affected members of a 3-generation Chinese family with aminoglycoside-induced sensorineural hearing loss. One additional family member with both mutations, who had a history of exposure to noise but not to aminoglycoside, exhibited mild hearing impairment. The dose and age at the time of drug administration seemed to be correlated with the severity of the hearing loss. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kalinec et al. (2005) demonstrated that supplementation of pregnant guinea pigs with L-carnitine prevented neonatal mortality and gentamicin-induced sensorineural hearing loss in their offspring. Experiments with auditory cell lines showed that gentamicin-induced toxicity was mediated by activation of the MAPK (176948) signaling pathway through upregulation of harakiri (HRK; 603447). L-carnitine prevented gentamicin-induced upregulation of Hrk and apoptosis via JNK1 (MAPK8; 601158). Studies with small interfering RNA (siRNA) showed that Hrk upregulation was necessary for gentamicin-induced apoptosis. </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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|
Jaber et al. (1992); Prazic et al. (1964)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akiyoshoi, M., Yano, S., Nakada, H., Sato, K., Shoji, T.
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<strong>Study on damage of the vestibular organs due to aminoglycoside antibiotics by means of supravital reduction of nitro-BT.</strong>
|
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Ear Res. Japan 7: 98-100, 1976.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Higashi, K.
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<strong>Unique inheritance of streptomycin-induced deafness.</strong>
|
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Clin. Genet. 35: 433-436, 1989.
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[PubMed: 2736791]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hu, D.-N., Qui, W.-Q., Wu, B.-T., Fang, L.-Z., Zhou, F., Gu, Y.-P., Zhang, Q.-H., Yan, J.-H., Ding, Y.-Q., Wong, H.
|
|
<strong>Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.</strong>
|
|
J. Med. Genet. 28: 79-83, 1991.
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[PubMed: 2002491]
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[Full Text: https://doi.org/10.1136/jmg.28.2.79]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H.-Y., Wang, S.-J., Rotter, J. I.
|
|
<strong>Sensorineural deafness inherited as a tissue specific mitochondrial disorder.</strong>
|
|
J. Med. Genet. 29: 86-90, 1992.
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[PubMed: 1613771]
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[Full Text: https://doi.org/10.1136/jmg.29.2.86]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Johnsonbaugh, R. E., Drexel, H. G., Light, I. J., Sutherland, J. M.
|
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<strong>Familial occurrence of drug-induced hearing loss.</strong>
|
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Am. J. Dis. Child. 127: 245-247, 1974.
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[PubMed: 4810278]
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[Full Text: https://doi.org/10.1001/archpedi.1974.02110210095014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kalinec, G. M., Fernandez-Zapico, M. E., Urrutia, R., Esteban-Cruciani, N., Chen. S., Kalinec, F.
|
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<strong>Pivotal role of harakiri in the induction and prevention of gentamicin-induced hearing loss.</strong>
|
|
Proc. Nat. Acad. Sci. 102: 16019-16024, 2005.
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[PubMed: 16239342]
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[Full Text: https://doi.org/10.1073/pnas.0508053102]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Podvinec, S., Stefanovic, P.
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<strong>Surdite par la streptomycine et predisposition familiale.</strong>
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J. Franc. Otorhinolaryng. 15: 61-67, 1966.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Prazic, M., Salaj, B., Subotic, R.
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<strong>Familial sensitivity to streptomycin.</strong>
|
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J. Laryng. Otol. 78: 1037-1043, 1964.
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[PubMed: 14222845]
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[Full Text: https://doi.org/10.1017/s0022215100063131]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Prazic, M., Salaj, B.
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<strong>Ototoxicity with children caused by streptomycin.</strong>
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Audiology 14: 173-176, 1975.
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[PubMed: 1131123]
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[Full Text: https://doi.org/10.3109/00206097509071734]
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Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., Fischel-Ghodsian, N.
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<strong>Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.</strong>
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Nature Genet. 4: 289-294, 1993.
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[PubMed: 7689389]
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[Full Text: https://doi.org/10.1038/ng0793-289]
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Tsuiki, T., Murai, S.
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<strong>Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea.</strong>
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Audiology 10: 315-322, 1971.
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[PubMed: 4131355]
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[Full Text: https://doi.org/10.3109/00206097109072568]
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</li>
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Viljoen, D. L., Sellars, S. L., Beighton, P.
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<strong>Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?</strong>
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J. Med. Genet. 20: 357-360, 1983.
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[PubMed: 6644766]
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[Full Text: https://doi.org/10.1136/jmg.20.5.357]
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Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., Greinwald, J. H., Han, D., Zhai, S., Young, W.-Y., Guan, M.-X.
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<strong>Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA-Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.</strong>
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Am. J. Med. Genet. 138A: 133-140, 2005.
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[PubMed: 16152638]
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[Full Text: https://doi.org/10.1002/ajmg.a.30952]
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Cassandra L. Kniffin - updated : 6/11/2007<br>Cassandra L. Kniffin - updated : 10/25/2005
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Victor A. McKusick : 9/24/1992
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carol : 03/04/2022<br>carol : 04/13/2010<br>terry : 8/26/2008<br>wwang : 7/9/2007<br>ckniffin : 6/11/2007<br>wwang : 11/8/2005<br>ckniffin : 10/25/2005<br>carol : 10/14/1993<br>carol : 9/23/1993<br>carol : 6/15/1993<br>carol : 3/2/1993<br>carol : 2/4/1993<br>carol : 9/24/1992
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