Cao Shunwang, Sha Yanhua, Ke Peifeng, Li Tingting, Yuan Weixi, Huang Xianzhang
Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China.
Foshan Neonate Disease Screening Center, Foshan Maternity and Children's Healthcare Hospital, Guangdong, China.
Am J Audiol. 2020 Jun 8;29(2):165-169. doi: 10.1044/2020_AJA-19-00094. Epub 2020 Mar 24.
Purpose The aim of this study was to determine the rate of deafness gene mutations in the Foshan area of South China. Method We enrolled the infants delivered in Foshan Maternity and Children's Healthcare Hospital. Deafness gene mutation was detected by HibriMax method. Our study tested 47,538 newborns within 3 days after birth, including 13 sites in four genes: (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), (c.583 C>T), (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G). The birth condition of infants was collected, including sex, low or high birth weight, twins, and premature delivery. Results In a total of 47,538 newborns, 1,415 were positively identified with deafness gene mutations. The total rate of the deafness gene mutation was 2.976%. The carrier rates of (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), (c.583 C>T), (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G) mutations were 0.000%, 0.048%, 1.422%, 0.185%, 0.000%, 0.076%, 0.116%, 0.755%, 0.160%, 0.187%, 0.021%, 0.000%, and 0.006%, respectively. Conclusions Our study showed that the c.235 del C mutation was the leading deafness-related mutation in the Foshan area of South China. Deafness gene mutations screening in newborns detected by bloodspot-based genetic screening tests can help the diagnosis of newborn congenital hearing loss.
目的 本研究旨在确定中国南方佛山地区耳聋基因突变率。方法 我们纳入了在佛山市妇幼保健院分娩的婴儿。采用HibriMax方法检测耳聋基因突变。本研究对47538名出生后3天内的新生儿进行了检测，检测四个基因中的13个位点：（c.35 del G、c.176 del 16、c.235 del C、c.299 del AT、c.155 del TCTG）、（c.583 C>T）、（c.2168 A>G、c.919-2 A>G、c.1299 C>T）以及（m.1555 A>G、m.1494 C>T、m.12201 T>C、m.7445 A>G）。收集婴儿的出生情况，包括性别、低体重或高体重、双胞胎以及早产情况。结果 在总共47538名新生儿中，1415名被确诊为耳聋基因突变阳性。耳聋基因突变总发生率为2.976%。（c.35 del G、c.176 del 16、c.235 del C、c.299 del AT、c.155 del TCTG）、（c.583 C>T）（c.2168 A>G、c.919-2 A>G、c.1299 C>T）以及（m.1555 A>G、m.1494 C>T、m.12201 T>C、m.7445 A>G）突变的携带率分别为0.000%、0.048%、1.422%、0.185%、0.000%、0.076%、0.116%、0.755%、0.160%、0.187%、0.021%、0.000%以及0.006%。结论 我们的研究表明，c.235 del C突变是中国南方佛山地区主要的耳聋相关突变。通过基于血斑的基因筛查检测新生儿耳聋基因突变有助于诊断新生儿先天性听力损失。
