title: [Genetic counseling and instruction for deaf couples directed by genetic testing].
abstract: OBJECTIVE
  To analyze the molecular pathogenesis of deaf couples by means of genetic testing. To provide accurate genetic counseling and instruction for deaf couples with different etiology based upon results of genetic testing.
  
  
  METHODS
  Four deaf families from July 2005 to May 2006. Each subject was with moderate to profound hearing loss. Genomic and mitochondrial DNA (mtDNA) of each subject were extracted from whole blood. Genetic testing of GJB2, SLC26A4 (PDS) and mtDNA A1555G mutation were offered to each individuals.
  
  
  RESULTS
  The husband from family 1 didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation while his wife was confirmed to carry compound SLC26A4 mutations. The possibility of their offspring's to be SLC26A4 single mutation carrier was 100%. The couple from family 2 both didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The possibility of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded. The husband from family 3 was confirmed to carry homozygous GJB2 mutations and a single SLC26A4 mutation while his wife who was diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan was proven to carry a single SLC26A4 mutation. The risk of their offspring's suffering EVAS was 50%. The husband from family 4 was mtDNA A1555G positive while his wife who was diagnosed with cochlear malformation by CT scan didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The risk of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded.
  
  
  CONCLUSIONS
  Genetic testing could be applied to offer the more accurate genetic counseling and instruction to deaf couples.
authors: Department of Otorhinolaryngology Head and Neck Surgery, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors: Bing
authors: B
authors: Han
authors: Pu
authors: P
authors: Dai
authors: Guo-jian
authors: GJ
authors: Wang
authors: Dong-yang
authors: DY
authors: Kang
authors: Xin
authors: X
authors: Zhang
authors: Yong-yi
authors: YY
authors: Yuan
authors: Qing-wen
authors: QW
authors: Zhu
authors: Zheng-ce
authors: ZC
authors: Jin
authors: Mei
authors: M
authors: Li
authors: Suo-qiang
authors: SQ
authors: Zhai
authors: De-liang
authors: DL
authors: Huang
authors: Dong-yi
authors: DY
authors: Han
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004272:DNA, Mitochondrial / Q000032:analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control*; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26