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 β4 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 β4 integrin gene in some forms of PA–JEB.
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Vidal, F., Aberdam, D., Miquel, C. et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10, 229–234 (1995). https://doi.org/10.1038/ng0695-229
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DOI: https://doi.org/10.1038/ng0695-229
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