Format

Send to

Choose Destination
Nat Genet. 1995 Jun;10(2):229-34.

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Author information

1
U385 INSERM, Faculté de Médecine, Nice, France.

Abstract

Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading frame, and a downstream premature termination codon. The maternal mutation occurs in a donor splice site, and results in in-frame exon skipping involving the cytoplasmic domain of the polypeptide. Our results implicate mutations in the beta 4 integrin gene in some forms of PA-JEB.

PMID:
7545057
DOI:
10.1038/ng0695-229
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center