A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

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dc.contributor.authorSirmaci, A.
dc.contributor.authorOeztuerkmen-Akay, H.
dc.contributor.authorErbek, S.
dc.contributor.authorIncesulu, A.
dc.contributor.authorDuman, D.
dc.contributor.authorTasir-Yilmaz, S.
dc.contributor.authorOezdag, H.
dc.date.accessioned2024-04-24T17:11:31Z
dc.date.available2024-04-24T17:11:31Z
dc.date.issued2009
dc.departmentDicle Üniversitesien_US
dc.description.abstractSirmaci A, ozturkmen-Akay H, Erbek S, Incesulu A, Duman D, Tasir-Yilmaz S, ozdag H, Tekin M. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.Clin Genet 2009: 75: 562-567. (C) Blackwell Munksgaard, 2009 Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families. Screening of this mutation in 254 families with ARNSSNHL, without GJB2 mutations, revealed four additional affected families. A novel mutation was found in a non-complementary marriage between a deaf couple who were homozygous for p.R84W and p.W57X, respectively with two affected children who were compound heterozygotes. Six of the TMIE families originated from southeastern Anatolia, making p.R84W a common cause of hearing loss in that region with a relative frequency of 10.3% (95% CI is 2.5-18.1%). The overall prevalence of the p.R84W mutation in ARNSSNHL in Turkey is 2.4% (95% CI is 0.7-4.0%). Genotyping of single-nucleotide polymorphisms flanking the TMIE gene revealed a conserved haplotype, suggesting a single origin for p.R84W from a common ancestor 1250 years ago (95% CI is 650-2500 years). We conclude that p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with ARNSSNHL.en_US
dc.description.sponsorshipTurkish Research and Technology Council [TUBITAK-105S464]; Ankara University Scientific Research Projects Department [20070809242]; Virginia Commonwealth Universityen_US
dc.description.sponsorshipThis study was supported by Turkish Research and Technology Council (TUBITAK-105S464) and Ankara University Scientific Research Projects Department (20070809242). We thank Prof. Walter Nance from Virginia Commonwealth University for his critical reading of the manuscript.en_US
dc.identifier.doi10.1111/j.1399-0004.2009.01183.x
dc.identifier.endpage567en_US
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue6en_US
dc.identifier.pmid19438934
dc.identifier.scopus2-s2.0-66549106188
dc.identifier.scopusqualityQ2
dc.identifier.startpage562en_US
dc.identifier.urihttps://doi.org/10.1111/j.1399-0004.2009.01183.x
dc.identifier.urihttps://hdl.handle.net/11468/17577
dc.identifier.volume75en_US
dc.identifier.wosWOS:000266488100011
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectConnexin 26en_US
dc.subjectConsanguinityen_US
dc.subjectDeafnessen_US
dc.subjectFounder Effecten_US
dc.subjectHearing Lossen_US
dc.subjectTmieen_US
dc.titleA founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatoliaen_US
dc.titleA founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
dc.typeArticleen_US

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