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Research Article

Deafness gene mutations in newborns in Beijing

Shujing HanBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Xiaojian YangBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Yi ZhouBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Pediatric Audiology Center, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Jinsheng HaoBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Pediatric Audiology Center, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Adong ShenKey Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China

Fang XuBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Ping ChuBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Yaqiong JinBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Jie LuBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Yongli GuoBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Jin ShiBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China;

Haihong LiuBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Pediatric Audiology Center, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; Correspondence[email protected]

Xin NiBeijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; ;Otolaryngology, Head and Neck Surgery, Beijing Children’s Hospital, Capital Medical University, Beijing, PR China; Correspondence[email protected]

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ABSTRACT

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.

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Acknowledgments

This research was supported by the National Natural Science Foundation of China (81300838), Beijing Natural Science Foundation (7144212), and Beijing NOVA Program (xx2014B059).

The authors assert that all procedures contributing to this work comply with the ethical standards of the relevant national and institutional guidelines on human experimentation and with the Helsinki Declaration of 1975, as revised in 2008.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

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Deafness gene mutations in newborns in Beijing

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Deafness gene mutations in newborns in Beijing

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