Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
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DOI：
10.1002/ajmg.a.36042
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发表时间：
2013-09
影响因子：
2
通讯作者：
Krantz, Ian D.
中科院分区：
文献类型：
--
作者：
Gallant, Emily;Francey, Lauren;Tsai, Ellen A.;Berman, Micah;Zhao, Yaru;Fetting, Heather;Kaur, Maninder;Deardorff, Matthew A.;Wilkens, Alisha;Clark, Dinah;Hakonarson, Hakon;Rehm, Heidi L.;Krantz, Ian D.
每 650 名新生儿中就有 1 人患有听力障碍，是最常见的先天性感觉障碍。常染色体隐性遗传非综合征性感音神经性听力障碍 (ARNSHI) 占家族性听力障碍病例的 80%。 GJB2 突变导致大量 ARNSHI（以及某些人群中高达 50% 记录的隐性听力障碍（例如超过 1 个受影响的兄弟姐妹）听力障碍）。 GJB2 基因突变是不同种族背景人群听力障碍的最常见原因之一。该基因的两个突变，35delG 和 167delT，占白种人群体中报告突变的大部分，尤其是地中海和德系犹太人背景的突变。 235delC 突变在东亚人群中最为普遍。有些突变的表征意义不太明确。 V37I 错义突变在亚洲人群中很常见，最初被描述为多态性，后来被描述为潜在的致病突变。我们在此报告了 15 个具有 ARNSHI 且具有 V37I GJB2 错义突变纯合性的无关个体。九人有中国血统，两人有未指明的亚洲血统，一人有日本血统，一人有越南血统，一人有菲律宾血统，一人有意大利和古巴/白人血统。 V37I GJB2 突变的纯合性可能是亚洲人群中更常见的致病性错义突变，导致轻度至中度感音神经性听力障碍。我们报告了一个推测的东亚个体特有的单倍型块，其中包含 GJB2 基因的 V37I 突变，这可能是东亚人群中高患病率的原因。
Hearing impairment affects 1 in 650 newborns, making it the most common congenital sensory impairment. Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing impairment cases. Mutations in GJB2 account for a significant number of ARNSHI (and up to 50% of documented recessive (e.g. more than 1 affected sibling) hearing impairment in some populations). Mutations in the GJB2 gene are amongst the most common causes of hearing impairment in populations of various ethnic backgrounds. Two mutations of this gene, 35delG and 167delT, account for the majority of reported mutations in Caucasian populations, especially those of Mediterranean and Ashkenazi Jewish background. The 235delC mutation is most prevalent in East Asian populations. Some mutations are of less well characterized significance. The V37I missense mutation, common in Asian populations, was initially described as a polymorphism and later as a potentially pathogenic mutation. We report here on 15 unrelated individuals with ARNSHI and homozygosity for the V37I GJB2 missense mutation. Nine individuals are of Chinese ancestry, two are of unspecified Asian descent, one is of Japanese descent, one individual is of Vietnamese ancestry, one of Philippine background and one of Italian and Cuban/Caucasian background. Homozygosity for the V37I GJB2 mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment. We report a presumed haplotype block specific to East Asian individuals with the V37I mutation encompassing the GJB2 gene that may account for the high prevalence in East Asian populations.
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影响因子：
5.3
作者：
Wilcox, SA;Saunders, K;Dahl, HHM
通讯作者：
Dahl, HHM
影响因子：
2
作者：
Kokotas, Haris;Van Laer, Lut;Petersen, Michael B.
通讯作者：
Petersen, Michael B.
DOI：
10.1007/bf00186783
发表时间：
1995-02-01
期刊：
ANATOMY AND EMBRYOLOGY
影响因子：
--
作者：
KIKUCHI, T;KIMURA, RS;ADAMS, JC
通讯作者：
ADAMS, JC
影响因子：
4.1
作者：
Siemering, Kirby;Manji, Shehnaaz S. M.;Dahl, Hans-Henrik M.
通讯作者：
Dahl, Hans-Henrik M.
2063例中国非综合征性听力障碍患者GJB2突变谱
影响因子：
7.4
作者：
Dai P;Yu F;Han B;Liu X;Wang G;Li Q;Yuan Y;Liu X;Huang D;Kang D;Zhang X;Yuan H;Yao K;Hao J;He J;He Y;Wang Y;Ye Q;Yu Y;Lin H;Liu L;Deng W;Zhu X;You Y;Cui J;Hou N;Xu X;Zhang J;Tang L;Song R;Lin Y;Sun S;Zhang R;Wu H;Ma Y;Zhu S;Wu BL;Han D;Wong LJ
通讯作者：
Wong LJ