title: Deafness gene mutations in newborns in Beijing.
abstract: OBJECTIVE
  To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations.
  
  
  METHODS
  Clinical study of consecutive newborns in Beijing using allele-specific polymerase chain reaction-based universal array.
  
  
  METHODS
  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.
authors.affiliation: a Beijing 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 ;
authors.forename: Shujing
authors.initials: S
authors.lastname: Han
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Xiaojian
authors.initials: X
authors.lastname: Yang
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;|c Pediatric Audiology Center , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;|c Pediatric Audiology Center , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Hao
authors.affiliation: d Key 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.
authors.forename: Adong
authors.initials: A
authors.lastname: Shen
authors.affiliation: a Beijing 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 ;
authors.forename: Fang
authors.initials: F
authors.lastname: Xu
authors.affiliation: a Beijing 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 ;
authors.forename: Ping
authors.initials: P
authors.lastname: Chu
authors.affiliation: a Beijing 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 ;
authors.forename: Yaqiong
authors.initials: Y
authors.lastname: Jin
authors.affiliation: a Beijing 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 ;
authors.forename: Jie
authors.initials: J
authors.lastname: Lu
authors.affiliation: a Beijing 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 ;
authors.forename: Yongli
authors.initials: Y
authors.lastname: Guo
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Jin
authors.initials: J
authors.lastname: Shi
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;|c Pediatric Audiology Center , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Haihong
authors.initials: H
authors.lastname: Liu
authors.affiliation: a Beijing 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 ;|b Otolaryngology, Head and Neck Surgery , Beijing Children's Hospital, Capital Medical University , Beijing , PR China ;
authors.forename: Xin
authors.initials: X
authors.lastname: Ni
mesh_terms: D002681:China; D002947:Cities / Q000706:statistics & numerical data; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening
keywords: Hearing loss; genes; mass screening