Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Janecke, AR; Hennies, HC; Günther, B; Gansl, G; Smolle, J; Messmer, EM; Utermann, G; Rittinger, O.
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Am J Med Genet A. 2005; 133(2):128-131
Doi: 10.1002/ajmg.a.30515
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Smolle Josef
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Adult - genetics
- Child - genetics
- Connexins - genetics
- DNA - chemistry
- DNA Mutational Analysis - chemistry
- Deafness - pathology
- Fatal Outcome - pathology
- Humans - pathology
- Ichthyosis - pathology
- Infant - pathology
- Keratitis - pathology
- Mutation - pathology
- Syndrome - pathology
- Find related publications in this database (Keywords)
- hearing loss
- connexin 26
- connexin 31
- connexin 30
- erythrokeratoderma