Deafness gene mutations in newborns in Beijing

作者：Shujing Han, Xiaojian Yang, Yi Zhou, Jinsheng Hao, Adong Shen, Xu Fang, Ping Chu, Yaqiong Jin, Jie Lu, Yongli Guo, Jin Shi, Haihong Liu, Xin Ni · 发表于：Acta Oto-Laryngologica · 年份：2016 · DOI：10.3109/00016489.2015.1128121 · 被引用次数：13 · 研究领域：Hearing, Cochlea, Tinnitus, Genetics、Hearing Loss and Rehabilitation、Hearing Impairment and Communication

OBJECTIVE: To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations. DESIGN: Clinical study of consecutive newborns in Beijing using allele-specific polymerase chain reaction-based universal array. STUDY SAMPLE: This study tested 37 573 newborns within 3 days after birth, including nine sites in four genes: GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), SLC26A4 (IVS7-2 A > G, 2168 A > G), MTRNR1 (1555 A > G, 1494 C > T), and GJB3 (538 C > T). The birth condition of infants was also recorded. RESULTS: Of 37 573 newborns, 1810 carried pathogenic mutations, or 4.817%. The carrier rates of GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2 A > G, 2168 A > G), and MTRNR1 (1555 A > G, 1494 C > T) mutations were 0.005%, 0.104%, 1.924%, 0.551%, 0.295%, 0.253%, 1.387%, 0.024%, and 0.274%, respectively. Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex, premature delivery, twin status, or birth weight. CONCLUSIONS: The 235delC GJB2 mutation was the most frequent deafness-related mutation in the Chinese population. Genetic screening for the deafness gene will help detect more cases of newborn congenital HL than current screening practices.