title: Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
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.
authors.affiliation: U385 INSERM, Faculté de Médecine, Nice, France.
authors.forename: F
authors.initials: F
authors.lastname: Vidal
authors.forename: D
authors.initials: D
authors.lastname: Aberdam
authors.forename: C
authors.initials: C
authors.lastname: Miquel
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: J P
authors.initials: JP
authors.lastname: Ortonne
authors.forename: G
authors.initials: G
authors.lastname: Meneguzzi
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D015870:Gene Expression; D006801:Humans; D007231:Infant, Newborn; D039503:Integrin alpha6; D039663:Integrin beta4; D016023:Integrins / Q000096:biosynthesis / Q000235:genetics*; D015603:Keratinocytes / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011707:Pyloric Stenosis / Q000235:genetics*; D012313:RNA / Q000032:analysis
chemical_list: D039503:Integrin alpha6; D039663:Integrin beta4; D016023:Integrins; D012313:RNA