The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
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GJB2 p.V37I突变与中国人听力表型的关系
DOI：
10.1371/journal.pone.0129662
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Dai P
中科院分区：
文献类型：
--
作者：
Huang S;Huang B;Wang G;Yuan Y;Dai P
非综合征性常染色体隐性耳聋最常见的原因是GJB2基因突变。GJB2基因的突变谱和突变的发生率在不同种族之间存在显著差异，而GJB2基因p.V37I突变与听力表型的关系存在争议。在本研究的3,864例患者中，106例(2.74%)存在p.V37I纯合子突变或p.V37I复合突变和其他GJB2致病突变，显著高于对照组(600人，0%)。在所有P.V37I纯合子突变或复合P.V37I加其他GJB2致病突变的患者中，听力损失的表型从轻微到深度不等。P37I纯合子变异组和复合P37I变异组与病原性突变组听力水平分布无明显差异。大多数(66.04%)V37I纯合子突变或P.V37I加其他致病突变患者的听力水平为轻度或中度。本研究发现P.V37I与耳聋有一定的关系，且携带P.V37I突变的致病基因组合的患者大多为轻、中度听力损失。因此，耳鼻咽喉科医生应考虑较轻的表型可能是由GJB2p.V37I突变引起的。
The most common cause of nonsyndromic autosomal recessive hearing loss is mutations in GJB2. The mutation spectrum and prevalence of mutations vary significantly among ethnic groups, and the relationship between p.V37I mutation in GJB2 and the hearing phenotype is controversial. Among the 3,864 patients in this study, 106 (2.74%) had a homozygous p.V37I variation or a compound p.V37I plus other GJB2 pathogenic mutation, a frequency that was significantly higher than that in the control group (600 individuals, 0%). The hearing loss phenotype ranged from mild to profound in all patients with the homozygous p.V37I variation or compound p.V37I plus other GJB2 pathogenic mutation. There was no difference in the distribution of the hearing level in the group with the homozygous p.V37I variation and the group with the compound p.V37I variation plus pathogenic mutation. Most patients (66.04%) with the V37I-homozygous variation or p.V37I plus other pathogenic mutation had a mild or moderate hearing level. This study found a definite relationship between p.V37I and deafness, and most patients who carried the pathogenic combination with p.V37I mutation had mild or moderate hearing loss. Therefore, otolaryngologists should consider that the milder phenotype might be caused by the GJB2 p.V37I mutation.
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