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Updated: Aug 6, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
Andrew J Griffith1, Yandan Yang, Shannon P Pryor
1Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.
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.
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