Chen Y, Cao Y, Li H-B, Mao J, Liu M-J, Liu Y-H, Wang B-J, Jiang D, Zhu Q, Ding Y, Wang W, Li H, Choy K W
Department of Neotology, Central Lab Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu, 215002, China.
Clin Genet. 2015 May;87(5):467-72. doi: 10.1111/cge.12452. Epub 2014 Sep 16.
Genetic causes account for more than half of congenital hearing loss cases. The most frequent mutations found in non-syndromic hearing loss patients occur in GJB2 and SLC26A4. Mitochondrial genome mutations are also prevalent. However, the frequency of common hearing loss mutations in the Chinese population has not yet been well estimated. Here, we implemented the SNaPshot genotyping method to investigate the carrier frequency of 15 commonly reported hearing loss mutations in GJB2, SLC26A4 and the mitochondrial genome based on a cohort of 5800 neonates in China. Up to 15.9% (923/5800) of the newborns carry at least one mutant allele. The top three were GJB2-c.109G>A, GJB2-c.235delC, and SLC26A4-c.919A>G, with notably high carrier frequencies of 1/10, 1/53 and 1/62 respectively, and mt-7444G>A with 1/141 was the most frequent allele in the mitochondrial genome. In this cohort, 0.48% (28/5800) of neonates were genetically diagnosed with hearing loss, from which seven cases failed an OAE test. This is the first epidemiological study of non-syndromic hearing loss in Chinese newborns indicating a notably high carrier frequency (1 per 6.3 newborns) among these 15 mutant alleles. Our carrier frequency data also aid in effective risk assessment and genetic counseling for hearing loss patients in the Chinese population.
遗传因素导致的先天性听力损失病例占一半以上。非综合征性听力损失患者中最常见的突变发生在GJB2和SLC26A4基因。线粒体基因组突变也很普遍。然而，中国人群中常见听力损失突变的频率尚未得到很好的评估。在此，我们采用SNaPshot基因分型方法，基于中国5800名新生儿队列，研究了GJB2、SLC26A4和线粒体基因组中15种常见报道的听力损失突变的携带频率。高达15.9%（923/5800）的新生儿携带至少一个突变等位基因。前三位分别是GJB2-c.109G>A、GJB2-c.235delC和SLC26A4-c.919A>G，携带频率分别高达1/10、1/53和1/62，而线粒体基因组中最常见的等位基因是mt-7444G>A，携带频率为1/141。在该队列中，0.48%（28/5800）的新生儿被基因诊断为听力损失，其中7例耳声发射测试未通过。这是中国新生儿非综合征性听力损失的首次流行病学研究，表明在这15个突变等位基因中携带频率显著较高（每6.3名新生儿中有1例）。我们的携带频率数据也有助于对中国人群中的听力损失患者进行有效的风险评估和遗传咨询。
