title: GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families.
abstract: OBJECTIVE
  GJB2 mutation is recognized as the prevalent causes of non-syndromic hearing loss (NSHL) worldwide. However, the mutation profiles of GJB2 are rarely reported in deafness probands of the assortative mating family. Therefore, this study aimed to characterize the frequencies of GJB2 mutations in probands with hearing loss in the assortative mating family in Hubei province, Central China.
  
  
  METHODS
  Genomic DNA was extracted from blood samples of 29 probands with hearing loss. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to sequencing to identify sequence variations.
  
  
  RESULTS
  None of 29 probands harbored homozygous mutation in GJB2, while GJB2 heterozygous mutations c.134G>A, c.139G>T, and a deletion c.235delC were identified in three probands, respectively.
  
  
  CONCLUSIONS
  GJB2 mutations are rare in Chinese probands of assortative mating families. Screening for responsible genes other than GJB2 is necessary for NSHL in these probands.
authors.affiliation: Department of Otolarygology, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Guanming
authors.initials: G
authors.lastname: Chen
authors.affiliation: Department of Medical Genetics, Tongji Medical College of Huazhong University of Science and Technology, 13 Hangkong Road, 430030 Wuhan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.affiliation: Rehabilitation Research Center for Deaf Children, Wuhan, China.
authors.forename: Jiashu
authors.initials: J
authors.lastname: Dong
authors.affiliation: Department of Pediatrics, Huai'an First People's Hospital, Nanjing Medical University, 6 Beijing Road West, Huai'an 223300, China. Electronic address: ljx0139@163.com.
authors.forename: Jiaxin
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Medical Genetics, Tongji Medical College of Huazhong University of Science and Technology, 13 Hangkong Road, 430030 Wuhan, China. Electronic address: siqingfu@mails.tjmu.edu.cn.
authors.forename: Siqing
authors.initials: S
authors.lastname: Fu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D005190:Family; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: Assortative mating; China; GJB2; Hearing loss; Mutation