title: Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
abstract: BACKGROUND
  Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome.
  
  
  OBJECTIVE
  To define the GJB2 mutations in three Japanese patients with KID syndrome.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis.
  
  
  RESULTS
  We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26.
  
  
  CONCLUSIONS
  These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.
authors.affiliation: Department of Dermatology, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. syotsumo@m2.kufm.kagoshima-u.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: T
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: N
authors.initials: N
authors.lastname: Ohtake
authors.forename: A
authors.initials: A
authors.lastname: Tomitaka
authors.forename: H
authors.initials: H
authors.lastname: Akamatsu
authors.forename: K
authors.initials: K
authors.lastname: Matsunaga
authors.forename: S
authors.initials: S
authors.lastname: Shiraishi
authors.forename: H
authors.initials: H
authors.lastname: Miura
authors.forename: J
authors.initials: J
authors.lastname: Adachi
authors.forename: T
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D000328:Adult; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26