title: Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
abstract: OBJECTIVE
  Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID.
  
  
  OBJECTIVE
  To define the GJB2 mutation in a Chinese patient with KID and brain malformation.
  
  
  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.
  
  
  RESULTS
  We identified a heterozygous missense mutation (D50N) in the GJB2 gene in this patient.
  
  
  CONCLUSIONS
  These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2.
authors.affiliation: Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China. lilichangxing@163.com
authors.forename: X-B
authors.initials: XB
authors.lastname: Zhang
authors.forename: S-C
authors.initials: SC
authors.lastname: Wei
authors.forename: C-X
authors.initials: CX
authors.lastname: Li
authors.forename: X
authors.initials: X
authors.lastname: Xu
authors.forename: Y-Q
authors.initials: YQ
authors.lastname: He
authors.forename: Q
authors.initials: Q
authors.lastname: Luo
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: Y-F
authors.initials: YF
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003616:Dandy-Walker Syndrome / Q000235:genetics / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26