KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
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KCNJ10 可能不会导致中国受试者非综合征性前庭导水管扩大 (NSEVA)。
DOI：
10.1371/journal.pone.0108134
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发表时间：
2014
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：
Zhao J;Yuan Y;Huang S;Huang B;Cheng J;Kang D;Wang G;Han D;Dai P
非综合征性前庭水管扩大（NSEVA）是一种常染色体隐性听力损失疾病，与SLC26A4突变相关。然而，并非所有NSEVA患者均携带SLC26A4双等位基因突变。最近的一项研究提出，SLC26A4和KCNJ10的单突变导致双基因NSEVA。我们研究了KCNJ10是否在中国NSEVA患者的发病机制中发挥作用。 对1056例中国NSEVA患者的SLC26A4基因进行测序。KCNJ10在131名SLC26A4的一个或两个等位基因中缺乏突变的患者中进行了筛选。此外，在840名对照中筛选KCNJ10，包括563名携带双等位基因SLC 26 A4突变的NSEVA诊断患者，48名因内耳畸形（不涉及前庭水管扩大（伊娃））导致的非综合征性听力损失患者，96名因各种原因导致的传导性听力损失患者，133名听力正常者，无遗传性听力损失家族史。925例NSEVA患者携带两个等位基因致病性SLC26A4突变。最常见的KCNJ10突变是c.812G>A（p.R271H）。SLC26A4单基因或双基因突变缺失的NSEVA患者与听力正常者相比，c.812G>A的发生率差异无统计学意义（1.53%vs.5.30%，χ 2 = 2.798，p = 0.172），可能为一种非致病性良性变异。 KCNJ10 c.1042C>T（p.R348C），即报道的EVA相关突变，在SLC26A4的一个或两个等位基因缺乏突变的NSEVA患者中未发现。此外，具有两个SLC26A4突变的NSEVA患者的听力正常的父母携带KCNJ10 c.1042C>T或c.812G>A突变和SLC26A4致病突变。 SLC26A4是中国NSEVA患者的主要遗传病因，占87.59%。KCNJ10可能不是中国人群NSEVA的贡献者。其他遗传或环境因素可能在SLC 26 A4零突变或单等位基因突变的中国伊娃患者的病因中发挥作用。
Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients. SLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA), 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss. 925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H). Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ2 = 2.798, p = 0.172), which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C), the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation. SLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other genetic or environmental factors are possibly play a role in the etiology of Chinese EVA patients with zero or monoallelic SLC26A4 mutation.
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影响因子：
5.5
作者：
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DOI：
10.1016/j.ijporl.2010.06.002
发表时间：
2010-09-01
影响因子：
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作者：
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通讯作者：
Marlin, Sandrine