A Comprehensive Study to Determine Heterogeneity of Autosomal Recessive Nonsyndromic Hearing Loss in Iran

被引:56
作者
Babanejad, Mojgan [1 ]
Fattahi, Zohreh [1 ]
Bazazzadegan, Niloofar [1 ]
Nishimura, Carla [2 ]
Meyer, Nicole [2 ]
Nikzat, Nooshin [1 ]
Sohrabi, Elahe [1 ]
Najmabadi, Amin [1 ]
Jamali, Peyman [3 ]
Habibi, Farkhonde [4 ]
Smith, Richard J. H. [2 ]
Kahrizi, Kimia [1 ]
Najmabadi, Hossein [1 ]
机构
[1] Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran 1985713834, Iran
[2] Univ Iowa, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA
[3] Shahrood Welf Org, Shahrood, Iran
[4] Rasht Welf Org, Rasht, Iran
关键词
autosomal recessive nonsyndromic hearing loss; mutation detection; homozygosity mapping; Iran; GJB2; MUTATIONS; GENE-MUTATIONS; COMMON-CAUSE; DEAFNESS; FAMILIES; IMPAIRMENT; PHENOTYPE; TMC1; IDENTIFICATION; FREQUENCIES;
D O I
10.1002/ajmg.a.35572
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most often resulting in non-syndromic deafness (70%), which is usually autosomal recessive (similar to 80%). Although the cause of hearing loss is heterogeneous, mutations in GJB2 gene at DFNB1 locus are the major cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Our previous study showed that mutations of GJB2 gene do not contribute to the major genetic load of deafness in the Iranian population (similar to 16%). Therefore, to define the importance of other genes in contributing to an ARNSHL phenotype in the Iranian population, we used homozygosity mapping to identify regions of autozygosity-by-descent in 144 families which two or more progeny had ARNSHL but were negative for GJB2 gene mutations. Using flanking or intragenic short-tandem repeat markers for 33 loci we identified 33 different homozygous variations in 10 genes, of which 9 are novel. In aggregate, these data explain similar to 40% of genetic background of ARNHSL in the Iranian population. (C) 2012 Wiley Periodicals, Inc.
引用
收藏
页码:2485 / 2492
页数:8
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