Premium
Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome
Author(s) -
Griffith Andrew J.,
Yang Yandan,
Pryor Shan P.,
Park HongJoon,
Jabs Ethylin Wang,
Nadol Joseph B.,
Russell Laura J.,
Wasserman Daniel I.,
Richard Gabriele,
Adams Joe C.,
Merchant Saumil N.
Publication year - 2006
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/01.mlg.0000224549.75161.ca
Subject(s) - ichthyosis , dysplasia , connexin , phenotype , mutation , abnormality , dyskeratosis , medicine , pathology , syndactyly , biology , genetics , dermatology , hyperkeratosis , gene , gap junction , psychiatry , intracellular
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.