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Laryngoscope. 2006 Aug;116(8):1404-8.

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

Author information

1
Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

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.

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