title: Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
abstract: Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with neonatal blistering and gastric anomalies, is known to be caused by mutations in the hemidesmosomal genes ITGA6 and ITGB4, which encode the alpha6 and beta4 integrin polypeptides, respectively. As part of our molecular diagnostics program, we have now encountered four families with EB-PA in which no mutations could be identified in these two genes. Instead, PCR amplification followed by heteroduplex scanning and/or direct nucleotide sequencing revealed homozygous mutations in the plectin gene (PLEC1), encoding another hemidesmosomal protein previously linked to EB with muscular dystrophy. Our findings provide evidence for additional molecular heterogeneity in EB, and emphasize the importance of screening EB-PA patients not only for alpha6beta4 integrin but also for plectin deficiency.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Pfendner
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003896:Desmosomes / Q000502:physiology; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D051190:Plectin; D011708:Pylorus / Q000002:abnormalities*
chemical_list: D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin