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GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

Item Type:Article
Title:GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
Creators Name:Janecke, A.R. and Hennies, H.C. and Guenther, B. and Gansl, G. and Smolle, J. and Messmer, E.M. and Utermann, G. and Rittinger, O.
Abstract:Keratitis-ichthyosis-deafness syndrome (KID; MIM 148210) is a rare congenital disorder characterized by vascularizing keratitis, sensorineural hearing loss (HL), and progressive erythrokeratoderma. Clinical variability including a fatal course of KID in the first year of life has been reported. Germline missense mutations in GJB2, encoding connexin-26, were recently found to cause KID in 14 unrelated juvenile and adult patients. We identified a de novo GJB2 mutation G45E in a patient displaying the fatal form of the disease. No mutations were detected in five other connexin and mitochondrial genes. The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL. This finding suggests different modes of action of the same GJB2 mutation depending on the genetic background. This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in GJB2.
Keywords:Connexin 26, Connexin 30, Connexin 31, Erythrokeratoderma, Hearing loss
Source:American Journal of Medical Genetics A
Page Range:128-131
Date:1 January 2005
Official Publication:https://doi.org/10.1002/ajmg.a.30515
PubMed:View item in PubMed

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