Yuan Yongyi, You Yiwen, Huang Deliang, Cui Jinghong, Wang Yong, Wang Qiang, Yu Fei, Kang Dongyang, Yuan Huijun, Han Dongyi, Dai Pu
Department of Otolaryngology, PLA General Hospital, Beijing, PR China.
J Transl Med. 2009 Sep 10;7:79. doi: 10.1186/1479-5876-7-79.
Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China.
A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN) genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct.
Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas.
In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN) were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.
在中国，每年有30000名婴儿出生时患有先天性听力障碍。中国人群听力障碍的分子病因尚未得到充分研究。为了向家庭提供适当的基因检测和咨询服务，我们对中国北方和南方两个典型地区的非综合征性耳聋分子病因进行了全面调查。
本研究共纳入284名在中国特殊教育学校就读的非相关听力损失学童，其中134名来自内蒙古赤峰市，其余150名来自江苏省南通市。对该人群的GJB2、GJB3、GJB6、SLC26A4、12S rRNA和tRNAser（UCN）基因进行筛查。所有携带SLC26A4突变或变异的患者均接受高分辨率颞骨CT扫描以确认前庭导水管扩大。
GJB2基因突变占非综合征性听力损失患者的18.31%，线粒体DNA的1555A>G突变占1.76%，SLC26A4突变占13.73%。在这些典型的中国地区，近50%的非综合征性听力损失患者携带GJB2或SLC26A4突变。两个地区之间GJB2和SLC26A4的突变谱或患病率没有显著差异。
在这个中国人群中，54.93%的听力损失病例与遗传因素有关。GJB2基因约占听力损失患者病因的18.31%，SLC26A4约占13.73%，线粒体DNA 1555A>G突变占1.76%。GJB3、GJB6和线粒体DNA tRNAser（UCN）突变在这个中国队列中并不常见。传统上，对中国聋人群体进行GJB2、SLC26A4和线粒体12S rRNA的筛查。
