title: [Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation].
abstract: OBJECTIVE
  To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery.
  
  
  METHODS
  DNA was extracted from amniotic cells in a pregnant woman close to 21 weeks' gestation, as well as from peripheral blood cells of the pregnant woman, her husband and their two sons. Screening for GJB2 and SLC26A4 gene mutations was firstly performed in the deafness proband (the first son of the couple), and then it was carried out in the fetus and the rest family members.
  
  
  RESULTS
  The first child of the family, i.e., the proband, was homozygous in the IVS7-2A > G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form.
  
  
  CONCLUSIONS
  It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.
authors.affiliation: National Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Hu
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: De-sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26