Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

Andrew J. Griffith, Yandan Yang, Shannon P. Pryor, Hong Joon Park, Ethylin Wang Jabs, Joseph B. Nadol, Laura J. Russell, Daniel I. Wasserman, Gabriele Richard, Joe C. Adams, Saumil N. Merchant

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: 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.

Original languageEnglish
Pages (from-to)1404-1408
Number of pages5
Issue number8
StatePublished - Aug 2006
Externally publishedYes


  • Cochleosaccular dysplasia
  • Connexin 26
  • GJB2
  • Hearing
  • KID syndrome
  • Scheibe dysplasia


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