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

Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann, Olaf Rittinger

Research output: Contribution to journalArticlepeer-review

83 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)128-131
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number2
Publication statusPublished - 1 Mar 2005
Externally publishedYes


Dive into the research topics of 'GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form'. Together they form a unique fingerprint.

Cite this