Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant

Mon Oct 3 02:22:01 2022

(2011) Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant. Genetic Testing and Molecular Biomarkers. pp. 489-493. ISSN 1945-0265

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Abstract

Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Here, we investigated GJB2 and GJB6 mutations in 114 patients from 77 affected ARNSHL families including 54 consanguineous marriages and 23 nonrelative marriages in the Iranian population. Clinical studies and genetic counseling were performed for all families. GJB2 and GJB6 genes were directly sequenced. Three known GJB6 large deletions del(GJB6-D13S1830), del(GJB6-D13S1854), and a 920 kb deletion were also checked by quantification of a common deleted region within the GJB6 gene. The frequency of consanguinity was 70.13% among the studied families. Biallelic GJB2 mutations were 16.67% in consanguineous marriages and 4.35% in nonrelative marriages. Mutations found were 35delG, delE120, R127H, M163V, W24X, V37I, G12D, V84A, 313-326del14, and E110K. The latter was a novel variant. Neither point mutation nor a large deletion in the GJB6 gene was found in the population. Mean frequency of GJB2 mutations was 17.92%. GJB2 mutations (and not GJB6 mutations) are the major causes of hearing loss in Iran. The role of consanguineous marriages is also highlighted in occurrence of GJB2-related hearing loss. We suggest that other genes may be involved in the population.

Item Type: Article
Creators:
CreatorsEmail
Mahdieh, N.UNSPECIFIED
Rabbani, B.UNSPECIFIED
Shirkavand, A.UNSPECIFIED
Bagherian, H.UNSPECIFIED
Movahed, Z. S.UNSPECIFIED
Fouladi, P.UNSPECIFIED
Rahiminejad, F.UNSPECIFIED
Masoudifard, M.UNSPECIFIED
Akbari, M. T.UNSPECIFIED
Zeinali, S.UNSPECIFIED
Keywords: 26 gene gjb2 connexin-30 gene mutations deletion frequency deafness impairment origins 35delg Biochemistry & Molecular Biology Genetics & Heredity
Divisions:
Page Range: pp. 489-493
Journal or Publication Title: Genetic Testing and Molecular Biomarkers
Journal Index: ISI
Volume: 15
Number: 7-8
Identification Number: https://doi.org/10.1089/gtmb.2010.0145
ISSN: 1945-0265
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/839

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