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    
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.
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
Related Documents :
18160787 - Similarities in the chromosomal distribution of ag and ac repeats within and between dr...
8334897 - A microsatellite marker within the duplicated d16s79 locus has a null allele; significa...
8563757 - Chromosomal localization of long trinucleotide repeats in the human genome by fluoresce...
17335567 - The facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on ...
16094307 - The place of the basques in the european y-chromosome diversity landscape.
12354097 - The yeast kinetochore protein slk19 is required to prevent aberrant chromosome segregat...
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.
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*
Connexin 43 / genetics*
DNA Mutational Analysis
Eye Abnormalities / genetics
Keratosis / genetics*,  pathology
Limb Deformities, Congenital / genetics
Sequence Deletion*
Skin Abnormalities / genetics
Syndactyly / genetics
Tooth Abnormalities / genetics
Reg. No./Substance:
0/Connexin 43

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

Previous Document:  Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GL...
Next Document:  Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the ...