title: Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
abstract: OBJECTIVE
  The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26).
  
  
  METHODS
  The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.
  
  
  METHODS
  The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones.
  
  
  RESULTS
  The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium.
  
  
  CONCLUSIONS
  GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.
authors.affiliation: Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Yandan
authors.initials: Y
authors.lastname: Yang
authors.forename: Shannon P
authors.initials: SP
authors.lastname: Pryor
authors.forename: Hong-Joon
authors.initials: HJ
authors.lastname: Park
authors.forename: Ethylin Wang
authors.initials: EW
authors.lastname: Jabs
authors.forename: Joseph B
authors.initials: JB
authors.lastname: Nadol
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Russell
authors.forename: Daniel I
authors.initials: DI
authors.lastname: Wasserman
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Joe C
authors.initials: JC
authors.lastname: Adams
authors.forename: Saumil N
authors.initials: SN
authors.lastname: Merchant
mesh_terms: D003051:Cochlea / Q000002:abnormalities*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007634:Keratitis / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D012444:Saccule and Utricle / Q000002:abnormalities*; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities / Q000473:pathology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26