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 journalArticle

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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.

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

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Mutation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Connexins
Mitochondrial Genes
Germ-Line Mutation
Keratitis
Sensorineural Hearing Loss
Austria
Missense Mutation
Hearing Loss
Keratitis-Ichthyosis-Deafness Syndrome
Alleles
Observation

Cite this

Janecke, A. R., Hennies, H. C., Günther, B., Gansl, G., Smolle, J., Messmer, E. M., ... Rittinger, O. (2005). GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. American Journal of Medical Genetics, 133 A(2), 128-131. https://doi.org/10.1002/ajmg.a.30515
Janecke, Andreas R. ; Hennies, Hans Christian ; Günther, Barbara ; Gansl, Gabriele ; Smolle, Josef ; Messmer, Elisabeth M. ; Utermann, Gerd ; Rittinger, Olaf. / GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. In: American Journal of Medical Genetics. 2005 ; Vol. 133 A, No. 2. pp. 128-131.
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Janecke, AR, Hennies, HC, Günther, B, Gansl, G, Smolle, J, Messmer, EM, Utermann, G & Rittinger, O 2005, 'GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form', American Journal of Medical Genetics, vol. 133 A, no. 2, pp. 128-131. https://doi.org/10.1002/ajmg.a.30515

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. / Janecke, Andreas R.; Hennies, Hans Christian; Günther, Barbara; Gansl, Gabriele; Smolle, Josef; Messmer, Elisabeth M.; Utermann, Gerd; Rittinger, Olaf.

In: American Journal of Medical Genetics, Vol. 133 A, No. 2, 01.03.2005, p. 128-131.

Research output: Contribution to journalArticle

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AU - Janecke, Andreas R.

AU - Hennies, Hans Christian

AU - Günther, Barbara

AU - Gansl, Gabriele

AU - Smolle, Josef

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AU - Rittinger, Olaf

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