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.