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

Laryngoscope. 2006 Aug;116(8):1404-8. doi: 10.1097/01.mlg.0000224549.75161.ca.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cochlea / abnormalities*
  • Connexin 26
  • Connexins / genetics*
  • Deafness / genetics*
  • Hearing Loss, Sensorineural / genetics
  • Heterozygote
  • Humans
  • Ichthyosis / complications
  • Ichthyosis / genetics*
  • Infant, Newborn
  • Keratitis / complications
  • Keratitis / genetics*
  • Male
  • Mutation
  • Saccule and Utricle / abnormalities*
  • Syndrome
  • Temporal Bone / abnormalities
  • Temporal Bone / pathology

Substances

  • Connexins
  • DFNA3 protein, human
  • Connexin 26