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

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.

• Authors: Andrew J Griffith, Yandan Yang, Shannon P Pryor, Hong-Joon Park, Ethylin Wang Jabs, Joseph B Nadol Jr, Laura J Russell, Daniel I Wasserman, Gabriele Richard, Joe C Adams, Saumil N Merchant
• Journal: The Laryngoscope (Laryngoscope) Vol. 116 Issue 8 Pg. 1404-8 (Aug 2006) ISSN: 0023-852X [Print] United States
• PMID: 16885744 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Cochlea (abnormalities)
• Connexin 26
• Connexins (genetics)
• Deafness (genetics)
• Hearing Loss, Sensorineural (genetics)
• Heterozygote
• Humans
• Ichthyosis (complications, genetics)
• Infant, Newborn
• Keratitis (complications, genetics)
• Male
• Mutation
• Saccule and Utricle (abnormalities)
• Syndrome
• Temporal Bone (abnormalities, pathology)