GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey

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dc.authoridSılan, Coşkun/0000-0002-8352-6571
dc.contributor.authorSılan, Fatma
dc.contributor.authorGuclu, Oguz
dc.contributor.authorKadioglu, Laliz Esin
dc.contributor.authorSılan, Coşkun
dc.contributor.authorAtik, Sinem
dc.contributor.authorUludağ, Ahmet
dc.contributor.authorDemiray, Asli
dc.date.accessioned2025-01-27T20:57:48Z
dc.date.available2025-01-27T20:57:48Z
dc.date.issued2011
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractObjective: 35delG mutation in the GJB2 (gap junction protein beta 2, connexin 26) gene is the most frequent mutation in patients with non-syndromic autosomal recessive deafness. The A1555G mutation in the mitochondrial 12S rRNA is another important genetic alteration, and is associated with aminoglycoside-induced deafness. The aim of this study was to explore the etiology of deafness and the prevalence of both mutations in the study cases. Materials and Methods: We examined audiological and dysmorphological features of all children at the Gelibolu School for the deaf. A questionnaire investigating prenatal, perinatal and postnatal etiological causes of deafness was prepared, and pedigree analysis was performed for each individual. After ENT examination, audiological tests and mutation analysis with the RT PCR method were carried out. Results: The GJB2 35delG and mitochondrial A1555G mutations were detected in 12% and 10% of all deaf school children, respectively. The percentages of genetic, acquired, both genetic and environmental, and unknown etiologies were 62.5, 20.3, 15.6 and 1.6, respectively. One patient had both Waardenburg Syndrome and the mitochondrial A1555G mutation, and one patient carried both 35delG and mitochondria! A1555G mutations. Interestingly, one sporadic case, who developed deafness after fever and aminoglycoside treatment, was found to have a homozygous 35delG mutation. His parents and healthy brother were heterozygous for the mutation. Discussion: Our results showed that dysmorphologic examination and mutation analysis are important for the clarification of etiology, and that they can be helpful for genetic counselling.
dc.description.sponsorshipCanakkale Onsekiz Mart University
dc.description.sponsorshipThis study was supported by the Project of 'Canakkale Ilindeki Isitme Engelli Olgularda Genetik Etiyoloji (Genetic Etiology of the Deaf Cases in Canakkale Region)' Scientific Research Projects of Canakkale Onsekiz Mart University.
dc.identifier.endpage371
dc.identifier.issn1308-7649
dc.identifier.issn2148-3817
dc.identifier.issue3
dc.identifier.scopus2-s2.0-80055104010
dc.identifier.scopusqualityQ3
dc.identifier.startpage361
dc.identifier.urihttps://hdl.handle.net/20.500.12428/26502
dc.identifier.volume7
dc.identifier.wosWOS:000298572200014
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherAves
dc.relation.ispartofJournal of International Advanced Otology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectSensorineural Hearing-Loss
dc.subjectChildren
dc.subjectPopulation
dc.subjectFrequency
dc.subjectVariability
dc.subjectDiagnosis
dc.subjectGenes
dc.subjectCx26
dc.titleGJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey
dc.typeArticle

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