المستودع الأكاديمي جامعة المدينة

Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation

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dc.creator Masoumeh Falah
dc.creator Massoud Houshmand
dc.creator Susan Akbaroghli
dc.creator Saeid Mahmodian
dc.creator Yaser Ghavami
dc.creator Mohammad Farhadi
dc.date 2011
dc.date.accessioned 2013-05-30T12:22:47Z
dc.date.available 2013-05-30T12:22:47Z
dc.date.issued 2013-05-30
dc.identifier http://www.mums.ac.ir/shares/basic_medical/basicmedjou/2011/may/a3.pdf
dc.identifier http://www.doaj.org/doaj?func=openurl&genre=article&issn=20083866&date=2011&volume=14&issue=50&spage=
dc.identifier.uri http://koha.mediu.edu.my:8181/jspui/handle/123456789/5168
dc.description AbstractObjective(s)Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old.Materials and MethodsPatients were tested with direct sequencing of entire coding region of the GJB2 gene.ResultsEight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations. ConclusionRole of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25% non-syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy.
dc.publisher Mashhad University of Medical Sciences
dc.source Iranian Journal of Basic Medical Sciences
dc.subject ARNSHL
dc.subject Connexin Cx26
dc.subject GJB2
dc.subject Hereditary hearing loss
dc.title Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation


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