Two patients with the V371/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?
Two patients with the V371/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?
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DOI：
10.1016/j.ijporl.2006.07.015
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发表时间：
2006-12-01
影响因子：
1.5
通讯作者：
Chang, Kay W.
中科院分区：
文献类型：
--
作者：
Schrijver, Iris;Chang, Kay W.
我们报告两位东亚感音神经性耳聋(SNHL)患者，GJB2基因235delC和V371突变的复合杂合性，其中一位患者有单侧前庭导水管扩大，这强调了在SNHL儿童中常规CT检查的重要性，即使已经发现GJB2(连接蛋白26)突变。第二名患者无法通过CT进行评估。V371突变的致病作用一直存在争议。我们回顾了文献，并提出了支持致病性的证据。在复合杂合子个体中进行的更大规模的研究和联合转基因研究[允许更好的基因-表型相关性和预测。(C)2006爱思唯尔爱尔兰有限公司。保留所有权利。
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V371 mutations in the GJB2 gene, One patient has a unilaterally enlarged vestibular aqueduct, which underscores the importance of routine CT examination in children with SNHL, even if GJB2 (connexin 26) mutations have been identified. The second patient was not available for evaluation by CT. The pathogenic role of the V371 mutation has been controversial. We review the literature and present evidence in support of pathogenicity. Larger studies in compound heterozygous individuals and co-transfection studies wit[ allow better genotype-phenotype correlations and prognostication. (C) 2006 Elsevier Ireland Ltd. All rights reserved.