PROFILE OF IRANIAN GJB2 MUTATIONS IN YOUNG POPULATION WITH NOVEL MUTATION

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FALAH MASOUMEH; HOUSHMAND MASSOUD; AKBAROGHLI SUSAN; MAHMODIAN SAEID; GHAVAMI YASER; FARHADI MOHAMMAD

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Journal: Iranian Journal of Basic Medical Sciences Year:2011 | Volume:14 | Issue:3 (50) Page(s): 213-218

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Title

PROFILE OF IRANIAN GJB2 MUTATIONS IN YOUNG POPULATION WITH NOVEL MUTATION

Author(s)

Keywords

ARNSHL

CONNEXIN CX26

GJB2

HEREDITARY HEARING LOSS

Abstract

Objective(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 Methods: Patients were tested with direct sequencing of entire coding region of the GJB2 gene.Results: Eight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations.Conclusion: Role 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% nonsyndromic 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

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PRESBYCUSIS: FROM CURRENT KNOWLEDGE TO FUTURE TREATMENT PROSPECTS

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APA: Copy

FALAH, MASOUMEH, HOUSHMAND, MASSOUD, AKBAROGHLI, SUSAN, MAHMODIAN, SAEID, GHAVAMI, YASER, & FARHADI, MOHAMMAD. (2011). PROFILE OF IRANIAN GJB2 MUTATIONS IN YOUNG POPULATION WITH NOVEL MUTATION. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 14(3 (50)), 213-218. SID. https://sid.ir/paper/564322/en

Vancouver: Copy

FALAH MASOUMEH, HOUSHMAND MASSOUD, AKBAROGHLI SUSAN, MAHMODIAN SAEID, GHAVAMI YASER, FARHADI MOHAMMAD. PROFILE OF IRANIAN GJB2 MUTATIONS IN YOUNG POPULATION WITH NOVEL MUTATION. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2011;14(3 (50)):213-218. Available from: https://sid.ir/paper/564322/en

IEEE: Copy

MASOUMEH FALAH, MASSOUD HOUSHMAND, SUSAN AKBAROGHLI, SAEID MAHMODIAN, YASER GHAVAMI, and MOHAMMAD FARHADI, “PROFILE OF IRANIAN GJB2 MUTATIONS IN YOUNG POPULATION WITH NOVEL MUTATION,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 14, no. 3 (50), pp. 213–218, 2011, [Online]. Available: https://sid.ir/paper/564322/en

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