{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T06:49:43Z","timestamp":1786949383555,"version":"build-2736575974"},"reference-count":73,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,7,11]],"date-time":"2016-07-11T00:00:00Z","timestamp":1468195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC\u2010000060\u201012"],"award-info":[{"award-number":["DC\u2010000060\u201012"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DC\u2010000039\u201019"],"award-info":[{"award-number":["DC\u2010000039\u201019"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. This review on hereditary deafness focuses on three examples considered at first glance to be uncomplicated, however, upon inspection, are enigmatic and ripe for future research efforts. The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome\/<jats:italic><jats:styled-content style=\"fixed-case\">DFNB<\/jats:styled-content>4<\/jats:italic> (<jats:styled-content style=\"fixed-case\">PDS<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> OMIM<\/jats:styled-content> 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of <jats:italic><jats:styled-content style=\"fixed-case\">CLPP<\/jats:styled-content><\/jats:italic> (<jats:styled-content style=\"fixed-case\">PRTLS<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 614129), and (iii) the unexplained extensive clinical variability associated with <jats:italic><jats:styled-content style=\"fixed-case\">TBC<\/jats:styled-content>1D24<\/jats:italic> mutations. At present, it is unknown how different mutations of <jats:italic><jats:styled-content style=\"fixed-case\">TBC<\/jats:styled-content>1D24<\/jats:italic> cause non\u2010syndromic deafness (<jats:styled-content style=\"fixed-case\">DFNB<\/jats:styled-content>86, <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 614617), epilepsy (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 605021), epilepsy with deafness, or <jats:styled-content style=\"fixed-case\">DOORS<\/jats:styled-content> syndrome (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 220500) that is characterized by <jats:styled-content>d<\/jats:styled-content>eafness, <jats:styled-content>o<\/jats:styled-content>nychodystrophy (alteration of toenail or fingernail morphology), <jats:styled-content>o<\/jats:styled-content>steodystrophy (defective development of bone), mental <jats:styled-content>r<\/jats:styled-content>etardation, and <jats:styled-content>s<\/jats:styled-content>eizures. A comprehensive understanding of the multifaceted roles of each gene associated with human deafness is expected to provide future opportunities for restoration as well as preservation of normal hearing.<\/jats:p>","DOI":"10.1111\/odi.12516","type":"journal-article","created":{"date-parts":[[2016,6,4]],"date-time":"2016-06-04T15:34:24Z","timestamp":1465054464000},"page":"551-558","source":"Crossref","is-referenced-by-count":28,"title":["Unresolved questions regarding human hereditary deafness"],"prefix":"10.1111","volume":"23","author":[{"given":"AU","family":"Rehman","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TB","family":"Friedman","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders 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