title: [Analysis of common mutations of deafness-related genes in 2725 newborns].
abstract: OBJECTIVE
  To screen for common mutations of deafness-related genes in order to determine the carrier rate, types of mutation, and their relevance to hearing loss.
  
  
  METHODS
  For 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry.
  
  
  RESULTS
  Among the 2725 newborns,149 (5.47%) were diagnosed with mutations, which included 84 (3.08%) with GJB2 mutations, 13 (0.48%) with GJB3 mutations, 49 (1.80%) with SLC26A4 mutations and 3 (0.11%) with 12S rRNA mutations. Fourteen mutational hotspots were identified. The most common mutations have included GJB2 c.235delC (65 cases), SLC26A4 IVS7-2A>G (34 cases), GJB2 c.299_300delAT (13 cases), GJB3 c.538C>T (7 cases), GJB2 c.176_191del16 (6 cases) and GJB3 c.547G>A (6 cases).
  
  
  CONCLUSIONS
  The detecting rate for deafness-related gene mutations has been relatively high. To broaden the screening spectrum may improve such rate. Besides GJB2, 12S rRNA, SLC26A4, GJB3 also features a high mutation rate in the region.
authors.affiliation: Department of Children's Health Care, Maternal and Child Health Care Hospital, Shaoxing, Zhejiang 312000, P.R.China. sxyuh@126.com.
authors.forename: Hong
authors.initials: H
authors.lastname: Yu
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.forename: Jingqun
authors.initials: J
authors.lastname: Yang
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Wu
authors.forename: Dongmei
authors.initials: D
authors.lastname: Sun
authors.forename: Wolong
authors.initials: W
authors.lastname: Ma
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D015997:Neonatal Screening; D012335:RNA, Ribosomal / Q000235:genetics*; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26; C068044:GJB3 protein, human