{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T00:13:19Z","timestamp":1770509599018,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,9]],"date-time":"2009-03-09T00:00:00Z","timestamp":1236556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives.<\/jats:title><jats:p>To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design.<\/jats:title><jats:p>Family study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>Members of each family received otologic and audiometric examination for the type and extent of hearing loss. Linkage mapping using Affymetrix 50K GeneChips and short tandem repeat (STRP) analysis localized the hearing loss in both families to the DFNB3 locus. Direct sequencing of the <jats:italic>MYO15A<\/jats:italic> gene was completed on affected members of both families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>Family L\u20103165 segregated a novel homozygous missense mutation (c.6371G&gt;A) that results in a p.R2124Q amino acid substitution in the myosin XVa protein, while family L\u2010896 segregated a novel homozygous missense (c.6555C&gt;T) mutation resulting in a p.P2073S amino acid change.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions.<\/jats:title><jats:p>These are the first <jats:italic>MYO15A<\/jats:italic> mutations reported to cause DFNB3 sensorineural hearing loss in the Iranian population. Like other mutations located in the myosin tail homology 4 (MyTH4) domain, the p.R2124Q and p.P2073S mutations are predicted to disrupt the function of the myosin XVa protein, which is integral to the mechanosensory activity of hair cells in the inner ear. Laryngoscope, 2009<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.20116","type":"journal-article","created":{"date-parts":[[2009,3,9]],"date-time":"2009-03-09T17:37:35Z","timestamp":1236620255000},"page":"727-733","source":"Crossref","is-referenced-by-count":37,"title":["Mutations in the first MyTH4 domain of <i>MYO15A<\/i> are a common cause of DFNB3 hearing loss"],"prefix":"10.1002","volume":"119","author":[{"given":"A. Eliot","family":"Shearer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Webster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole C.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadijeh","family":"Jalalvand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaz","family":"Arzhanginy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J.","family":"Kimberling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietrich","family":"Stephan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J. H.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,9]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71047-3"},{"key":"e_1_2_7_3_2","unstructured":"Van CampG SmithRJH.Hereditary Hearing Loss Homepage. Available at:http:\/\/webh01.ua.ac.be\/hhh\/. 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