Currently from the Soree Ear Clinic (h.-j.p.), Seoul, Korea; the Department of Dermatology (d.i.w.), Boston University School of Medicine, Boston, Massachusetts, U.S.A.; and GeneDx, Inc. (g.r.), Gaithersburg, Maryland, U.S.A.
Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome†
Version of Record online: 2 JAN 2009
Copyright © 2006 The Triological Society
Volume 116, Issue 8, pages 1404–1408, August 2006
How to Cite
Griffith, A. J., Yang, Y., Pryor, S. P., Park, H.-J., Jabs, E. W., Nadol, J. B., Russell, L. J., Wasserman, D. I., Richard, G., Adams, J. C. and Merchant, S. N. (2006), Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome. The Laryngoscope, 116: 1404–1408. doi: 10.1097/01.mlg.0000224549.75161.ca
This work was supported by NIDCD/NIH intramural research funds 1 Z01 DC000060-02 and 1 Z01 DC000064-02 (Dr. Griffith), NIH 13849 (Dr. Jabs), and by Mr. Axel Eliasen (Dr. Merchant).
- Issue online: 2 JAN 2009
- Version of Record online: 2 JAN 2009
- Manuscript Accepted: 5 APR 2006
- Scheibe dysplasia;
- cochleosaccular dysplasia;
- connexin 26;
- KID 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.