Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
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GJB2 p.v37i变体在儿科人群中轻度或中度听力损失及其致病性的解释中的患病率。
DOI：
10.1371/journal.pone.0061592
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Choi BY
中科院分区：
文献类型：
--
作者：
Kim SY;Park G;Han KH;Kim A;Koo JW;Chang SO;Oh SH;Park WY;Choi BY
GJB2的p.V37I变体已在中度或轻度听力损失的受试者中报道，特别是在东亚人群中。本研究旨在估计p.V37I变异在这些受试者中的患病率，并从流行病学上证明其引起轻度听力损失的致病潜力。来自201个听力损失家庭的380名受试者被纳入研究。选取常染色体隐性遗传或散发性听力损失家庭103个，年龄小于15岁。对103个家族的先证者进行GJB2测序。比较p.V37I变异在轻度、轻度或中度听力损失组（I组）和重度或重度听力损失组（II组）之间的患病率。在可能的情况下，对p.V37I携带者的82个耳聋基因进行了针对性的下一代测序，以排除其他致病基因的存在。103个先证者中有5个（4.8%）携带p.V37I。p.V37I在ⅰ组的携带频率（18.2%）明显高于ⅱ组（1.2%）和韩国正常听力对照组（1.0%）。在18.2%的韩国轻度听力损失患者中检测到GJB2的p.V37I变体，这强烈表明它与轻度听力损失的发病机制有关，这可能证明对韩国人群中这些受试者的GJB2进行测序是合理的。
A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population.
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DOI：
10.1016/j.ijporl.2006.07.015
发表时间：
2006-12-01
影响因子：
1.5
作者：
Schrijver, Iris;Chang, Kay W.
通讯作者：
Chang, Kay W.
影响因子：
4
作者：
del Castillo, FJ;Rodríguez-Ballesteros, M;del Castillo, I
通讯作者：
del Castillo, I
影响因子：
3.5
作者：
Han, Sung-Hee;Park, Hong-Joon;Lee, Kyoung-Ryul
通讯作者：
Lee, Kyoung-Ryul
影响因子：
2
作者：
Pollak, Agnieszka;Skorka, Agata;Ploski, Rafal
通讯作者：
Ploski, Rafal
影响因子：
8.8
作者：
Chan, Dylan K.;Schrijver, Iris;Chang, Kay W.
通讯作者：
Chang, Kay W.