Document Detail


Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.
MedLine Citation:
PMID:  17256797     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Oculo-dento-digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly expressed in skin, ODDD is usually not associated with skin symptoms. We recently described a family with ODDD and palmoplantar keratoderma. Interestingly, mutation carriers had a novel dinucleotide deletion in the GJA1 gene that resulted in truncation of part of the C-terminus. We speculated, that truncation of the C-terminus may be uniquely associated with skin disease in ODDD. Here, we describe a patient with ODDD and palmar hyperkeratosis caused by a novel dinucleotide deletion that truncates most of the connexin 43 C-terminus. Thus, our findings support the notion that such mutations are associated with the occurrence of skin symptoms in ODDD and provide the first evidence for the existence of a genotype-phenotype correlation.
Authors:
M Vreeburg; E A de Zwart-Storm; M I Schouten; R G L Nellen; D Marcus-Soekarman; M Devies; M van Geel; M A M van Steensel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-02-01     Completed Date:  2007-04-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  360-3     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Connexin 43 / genetics*
DNA Mutational Analysis
Eye Abnormalities / genetics
Female
Humans
Keratosis / genetics*,  pathology
Limb Deformities, Congenital / genetics
Phenotype
Sequence Deletion*
Skin Abnormalities / genetics
Syndactyly / genetics
Tooth Abnormalities / genetics
Chemical
Reg. No./Substance:
0/Connexin 43

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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