Evidence for genotype-phenotype correlation for OTOF mutations

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dc.contributor.authorYildirim-Baylan, Muzeyyen
dc.contributor.authorBademci, Guney
dc.contributor.authorDuman, Duygu
dc.contributor.authorOzturkmen-Akay, Hatice
dc.contributor.authorTokgoz-Yilmaz, Suna
dc.contributor.authorTekin, Mustafa
dc.date.accessioned2024-04-24T16:14:55Z
dc.date.available2024-04-24T16:14:55Z
dc.date.issued2014
dc.departmentDicle Üniversitesien_US
dc.description.abstractObjectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.en_US
dc.description.sponsorshipNational Institutes of Health [RO1DC009645]en_US
dc.description.sponsorshipThis study was supported by the National Institutes of Health grant RO1DC009645 to M.T.en_US
dc.identifier.doi10.1016/j.ijporl.2014.03.022
dc.identifier.endpage953en_US
dc.identifier.issn0165-5876
dc.identifier.issn1872-8464
dc.identifier.issue6en_US
dc.identifier.pmid24746455
dc.identifier.scopus2-s2.0-84899905607
dc.identifier.scopusqualityQ2
dc.identifier.startpage950en_US
dc.identifier.urihttps://doi.org/10.1016/j.ijporl.2014.03.022
dc.identifier.urihttps://hdl.handle.net/11468/15512
dc.identifier.volume78en_US
dc.identifier.wosWOS:000336827300012
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevier Ireland Ltden_US
dc.relation.ispartofInternational Journal of Pediatric Otorhinolaryngology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAuditory Neuropathyen_US
dc.subjectAutosomal Recessiveen_US
dc.subjectHearing Lossen_US
dc.subjectOtofen_US
dc.titleEvidence for genotype-phenotype correlation for OTOF mutationsen_US
dc.titleEvidence for genotype-phenotype correlation for OTOF mutations
dc.typeArticleen_US

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