The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas

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dc.authoridbagci, binnur/0000-0003-1323-3359
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorAltuntas, Emine Elif
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorÖzdemir, Öztürk
dc.contributor.authorBagci, Binnur
dc.contributor.authorSezgin, Ilhan
dc.date.accessioned2025-01-27T20:22:41Z
dc.date.available2025-01-27T20:22:41Z
dc.date.issued2019
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractOBJECTIVES: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for cases who were found to have mutation, and to contribute to decrease the frequency of mutant allele in the next generation and plan treatment and rehabilitation with early diagnosis. MATERIALS and METHODS: The study included 53 unrelated cases that were diagnosed with congenital NSHL between June 2009 and March 2010. Multiplex ligation-dependent probe amplification method was used for genotyping of GJB2, GJB3, and GJB6 gene mutations. RESULTS: Heterozygous 35delG variant was determined in 1,9% (n=1) of cases, homozygous 35delG in 15.1% (n=8), heterozygous IVS1+1G>A mutation in 1.9% (n=1), compound heterozygous in 3.8% (n=2), and homozygous IVS1+1G>A variant in 3.8% (n=2). None of the cases had mutation in GJB3 and GJB6 genes. Mutated allele frequencies in the present study were found to be 17.9% for 35delG and 6,6% for IVS1+1G>A. CONCLUSION: The present study showed that 35delG mutation is the most common variant in the Sivas region, and that IVS1+1G>A mutation should be investigated in hearing loss. Another result of the present study was that genetic analyzes would allow early diagnosis of hearing impairments particularly when infants whose parents have consanguinity do not pass the newborn hearing screening.
dc.identifier.doi10.5152/iao.2019.5401
dc.identifier.endpage378
dc.identifier.issn1308-7649
dc.identifier.issn2148-3817
dc.identifier.issue3
dc.identifier.pmid31846914
dc.identifier.scopus2-s2.0-85076840049
dc.identifier.scopusqualityQ3
dc.identifier.startpage373
dc.identifier.urihttps://doi.org/10.5152/iao.2019.5401
dc.identifier.urihttps://hdl.handle.net/20.500.12428/21995
dc.identifier.volume15
dc.identifier.wosWOS:000504768800008
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAves
dc.relation.ispartofJournal of International Advanced Otology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectNon-syndromic hearing loss
dc.subjectGJB2
dc.subject35delG
dc.subjectIVS1+1G > A
dc.subjectmutation
dc.titleThe Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas
dc.typeArticle

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