Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

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dc.contributor.authorSirmaci, Asli
dc.contributor.authorDuman, Duygu
dc.contributor.authorOzturkmen-Akay, Hatice
dc.contributor.authorErbek, Seyra
dc.contributor.authorIncesulu, Armagan
dc.contributor.authorOzturk-Hismi, Burcu
dc.contributor.authorArici, Z. Serap
dc.date.accessioned2024-04-24T16:14:54Z
dc.date.available2024-04-24T16:14:54Z
dc.date.issued2009
dc.departmentDicle Üniversitesien_US
dc.description.abstractGenome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family. Mutation analysis was performed in families showing co-segregation Of autosomal recessive SNHL with haplotypes at the DFNB7/11 locus. A total of six different mutations in seven families were identified, including novel missense alterations, p.G444R (c.1330G > A), p.R445C (c.1333C > T), and p.1677T (c.2030T > C), one novel splice site mutation IVS6+2 T > A (c.64+2T > A), and a novel large deletion ofapproximately 31 kb at the 3' region of the gene including exons 19-24, as well as a previously reported nonsense mutation, p.R34X (c.100C > T). All identified Mutations co-segregated with autosomal recessive SNHL in all families and were not found in Turkish hearing controls. These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss. (c) 2009 Elsevier Ireland Ltd. All rights reserved.en_US
dc.description.sponsorshipTurkish Research and Technology Council (TUBITAIK); Ankara University Scientific Research Projects Unit [105S464, 20060809242]en_US
dc.description.sponsorshipThis study was supported by Turkish Research and Technology Council (TUBITAIK) and Ankara University Scientific Research Projects Unit with contract grant numbers 105S464 and 20060809242, respectively.en_US
dc.identifier.doi10.1016/j.ijporl.2009.01.005
dc.identifier.endpage705en_US
dc.identifier.issn0165-5876
dc.identifier.issn1872-8464
dc.identifier.issue5en_US
dc.identifier.pmid19187973en_US
dc.identifier.scopus2-s2.0-63349110148en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage699en_US
dc.identifier.urihttps://doi.org/10.1016/j.ijporl.2009.01.005
dc.identifier.urihttps://hdl.handle.net/11468/15507
dc.identifier.volume73en_US
dc.identifier.wosWOS:000265767800015
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 Otorhinolaryngologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAutosomal Recessiveen_US
dc.subjectConsanguinityen_US
dc.subjectDeafnessen_US
dc.subjectHearing Impairmenten_US
dc.subjectHearing Lossen_US
dc.titleMutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutationsen_US
dc.typeArticleen_US

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