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Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Nature Genetics volume 10, pages 229–234 (1995)Cite this article

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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Authors and Affiliations

  1. U385 INSERM, Faculté de Medecine, 06107, Nice Cedex, 2, France

    Frédérique Vidal, Daniel Aberdam, Corinne Miquel, Jean-Paul Ortonne & Guerrino Meneguzzi

  2. Service de Dermatologie, Hôital Pasteur, 06002, Nice Cedex, 1, France

    Frédérique Vidal & Jean-Paul Ortonne

  3. Departments of Dermatology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, 19107, USA

    Angela M. Christiano, Leena Pulkkinen & Jouni Uitto

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  1. Frédérique Vidal
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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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