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

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.