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We identified two new families with heterozygous truncating <jats:italic><jats:styled-content style=\"fixed-case\">DIAPH1<\/jats:styled-content><\/jats:italic> mutations (p.<jats:styled-content style=\"fixed-case\">Ala1210Serfs<\/jats:styled-content>*31 and p.Arg1213*). In contrast to the extensively studied original <jats:italic><jats:styled-content style=\"fixed-case\">DFNA1<\/jats:styled-content><\/jats:italic> family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying <jats:italic><jats:styled-content style=\"fixed-case\">DFNA1<\/jats:styled-content><\/jats:italic> as a syndrome. Consequently, we suggest to include the blood count into the initial clinical workup of patients with autosomal dominant hearing loss to guide the genetic diagnosis. We provide the first data on <jats:styled-content style=\"fixed-case\">DIAPH1<\/jats:styled-content> expression in the organ of Corti, where it localizes to the inner pillar cells, at the base of the outer hair cells. Homozygous truncating <jats:italic><jats:styled-content style=\"fixed-case\">DIAPH1<\/jats:styled-content><\/jats:italic> mutations located N\u2010terminally to the <jats:italic><jats:styled-content style=\"fixed-case\">DFNA1<\/jats:styled-content><\/jats:italic> mutations have recently been identified in autosomal recessive microcephaly. It is therefore noteworthy that we found <jats:styled-content style=\"fixed-case\">DIAPH1<\/jats:styled-content> expression also in spiral ganglion neurons and in the barrier between the myelinating glia of the peripheral nervous system and oligodendrocytes that form the myelinating glia of the central nervous system (CNS).<\/jats:p>","DOI":"10.1111\/cge.12915","type":"journal-article","created":{"date-parts":[[2016,11,3]],"date-time":"2016-11-03T09:14:11Z","timestamp":1478164451000},"page":"892-901","source":"Crossref","is-referenced-by-count":56,"title":["Extension of the clinical and molecular phenotype of <i><scp>DIAPH1<\/scp><\/i>\u2010associated autosomal dominant hearing loss (<i><scp>DFNA1<\/scp><\/i>)"],"prefix":"10.1111","volume":"91","author":[{"given":"C.","family":"Neuhaus","sequence":"first","affiliation":[{"name":"Bioscientia Center for Human Genetics  Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Lang\u2010Roth","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Zimmermann","sequence":"additional","affiliation":[{"name":"Molecular Physiology of Hearing, Hearing Research Centre T\u00fcbingen (THRC), Department of Otolaryngology University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Heller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Eisenberger","sequence":"additional","affiliation":[{"name":"Bioscientia Center for Human Genetics  Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Weikert","sequence":"additional","affiliation":[{"name":"Gemeinschaftspraxis f\u00fcr Phoniatrie P\u00e4daudiologie und Hals\u2010Nasen\u2010Ohrenheilkunde  Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Markus","sequence":"additional","affiliation":[{"name":"Kompetenzzentrum f\u00fcr Humangenetik Gyn\u00e4kologie und Laboratoriumsmedizin  Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Knipper","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.J.","family":"Bolz","sequence":"additional","affiliation":[{"name":"Bioscientia Center for Human Genetics  Ingelheim Germany"},{"name":"Institute of Human Genetics University Hospital of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2008.08.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306099"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5341.1315"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.11.5181"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-10-675629"},{"key":"e_1_2_6_7_1","first-page":"160","article-title":"The Mainz audiometric speech test for children (author's transl)","volume":"22","author":"Biesalski P","year":"1974","journal-title":"HNO"},{"key":"e_1_2_6_8_1","first-page":"399","article-title":"The G\u00f6ttingen audiometric speech test for children. 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