Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China
复制标题
中国山东省严重非综合征性感音神经性听力损失人工耳蜗植入患者致聋基因突变患病率
DOI：
10.1111/ahg.12207
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发表时间：
2017-11-01
影响因子：
1.9
通讯作者：
Wang, Haibo
中科院分区：
文献类型：
--
作者：
Luo, Jianfen;Bai, Xiaohui;Wang, Haibo
GJB2、SLC26A4和mtDNA12SrRNA突变是中国非综合征性感音神经性听力损失（NSHL）最常见的遗传原因，但以往的基因筛查主要针对中度至重度听力损失的患者。我们的目的是检测 NSHL 人群在更具体的严重程度范围内的突变频率。招募了在山东省立医院（中国山东）接受过人工耳蜗植入的严重 NSHL 患者。大多数 (n = 472) 年龄在 0.7 至 6 岁之间，其余 (n = 63) 年龄在 6 至 70 岁之间。通过SNP扫描分析总共筛选了这三个基因的115个突变等位基因。其中19.44%（104/535）的患者被发现存在GJB2突变，最常见的等位基因是c.235delC，其次是c.299_300delAT和c.109G>A。 13.46%的患者（72/535）检测到SLC26A4突变，最常见的等位基因是c.919-2A>G（IVS7-2A>G），其次是c.1174A>T和c.2168A>G。 7 名患者（1.31%）携带 mtDNA12SrRNA 突变，等位基因为 m.1555A>G 和 m.1494C>T。我们发现与中度至重度NSHL人群相比，c.109G>A（GJB2）等位基因频率在重度NSHL人群中相对较低，而c.1174A>T（SLC26A4）等位基因频率相对较高。这表明这些突变可能与耳聋程度有关，这需要更多的观察和分析来支持。
The mutations of GJB2, SLC26A4, and mtDNA12SrRNA are the most common inherited causes of nonsyndromic sensorineural hearing loss (NSHL) in China, yet previous genetic screenings were mainly carried on patients with moderate-to-profound impairment. We aimed to detect the mutation frequencies in NSHL population within a more specified range of severity. Patients with profound NSHL who had undergone cochlear implantation in the Shandong Provincial Hospital (Shandong, China) were recruited. The majority (n = 472) were between 0.7 and 6 years old, and the remaining (n = 63) were between 6 and 70 years old. In total, 115 mutation alleles of the three genes were screened with SNP scan assay. Of the patients, 19.44% (104/535) were found to have GJB2 mutations, and the most common allele was c.235delC, followed by c.299_300delAT and c.109G>A. SLC26A4 mutations were detected in 13.46% patients (72/535), and the most common allele was c.919-2A>G (IVS7-2A>G), followed by c.1174A>T and c.2168A>G. Seven patients (1.31%) carried mutations in mtDNA12SrRNA, with the alleles of m.1555A>G and m.1494C>T. We found the allele frequency of c.109G>A (GJB2) was relatively lower in the profound NSHL population in comparison to the moderate-to-profound ones, and the c.1174A>T (SLC26A4) relatively higher. It suggests those mutations may be connected with the degree of deafness, which needs more observations and analyses to support.