التفاصيل البيبلوغرافية
| العنوان: |
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. |
| المؤلفون: |
Griffith AJ, Yang Y, Pryor SP, Park H, Jabs EW, Nadol JB Jr., Russell LJ, Wasserman DI, Richard G, Adams JC, Merchant SN, Griffith, Andrew J, Yang, Yandan, Pryor, Shannon P, Park, Hong-Joon, Jabs, Ethylin Wang, Nadol, Joseph B Jr, Russell, Laura J, Wasserman, Daniel I, Richard, Gabriele |
| المصدر: |
Laryngoscope; Aug2006, Vol. 116 Issue 8, p1404-1408, 5p |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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