Chen Wen-Xia, Huang Yue, Yang Xiao-Lin, Duan Bo, Lu Ping, Wang Yan, Xu Zheng-Min
Department of Otolaryngology-Head and Neck Surgery, Children's hospital of Fudan University, Shanghai, China.
Department of Otolaryngology-Head and Neck Surgery, Children's hospital of Fudan University, Shanghai, China.
Int J Pediatr Otorhinolaryngol. 2016 May;84:48-51. doi: 10.1016/j.ijporl.2016.02.024. Epub 2016 Mar 2.
The gap junction β2 (GJB2) gene is associated with more than half of the recessive forms of hereditary hearing loss (HHL). However, the correlation between p.V27I and p.E114G variants of GJB2 and hearing phenotype remains controversial. This study aimed to clarify possible roles of these variants in Chinese infants with nonsyndromic hearing loss (NSHL). Hearing and gene tests were conducted in 300 infants (aged 0-3 months) with NSHL and 484 normal infants (aged 0-3 months). The p.V27I and p.E114G variants appeared frequently in both NSHL patients and normal controls. The allele and haplotype frequencies of p.V27I and p.E114G in patients and controls were compared, but no significant difference was observed (p=0.44 and p=0.26, respectively). Moreover, genotype frequencies of the p.V27I variant showed no significant difference between the two groups (p=0.66). Interestingly, more homozygote p.V27I/p.E114G subjects were found in NSHL infants than in controls (5/484 and 13/300, respectively), most of whom (61.54%) had mild or moderate hearing losses. Our results indicate that homozygote p.V27I/p.E114G is associated with mild and moderate HHL.
缝隙连接蛋白β2（GJB2）基因与超过半数的隐性遗传性听力损失（HHL）相关。然而，GJB2基因的p.V27I和p.E114G变异与听力表型之间的相关性仍存在争议。本研究旨在阐明这些变异在中国非综合征性听力损失（NSHL）婴儿中的可能作用。对300例NSHL婴儿（0 - 3个月龄）和484例正常婴儿（0 - 3个月龄）进行了听力和基因检测。p.V27I和p.E114G变异在NSHL患者和正常对照中均频繁出现。比较了患者和对照中p.V27I和p.E114G的等位基因和单倍型频率，但未观察到显著差异（分别为p = 0.44和p = 0.26）。此外，p.V27I变异的基因型频率在两组之间也无显著差异（p = 0.66）。有趣的是，在NSHL婴儿中发现的纯合子p.V27I/p.E114G个体比对照组多（分别为5/484和13/300），其中大多数（61.54%）有轻度或中度听力损失。我们的结果表明，纯合子p.V27I/p.E114G与轻度和中度HHL相关。
