alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

G H S Ashton, P Sorelli, J E Mellerio, F M Keane, R A J Eady, J A McGrath

Research output: Contribution to journalArticlepeer-review

57 Citations (Scopus)

Abstract

Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha6 beta4 integrin (ITGA6 and ITGB4). Clinically it is characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus, Additional features of JEB-PA include involvement of the urogenital tract, aplasia cutis and failure to thrive. While most affected individuals have a poor prognosis resulting in death in infancy, others have milder clinical features and a better prognosis. We report two previously undescribed homozygous ITGB4 mutations in two unrelated families, which resulted in severe skin blistering, pyloric atresia and lethality in infancy. Delineation of the mutations was used to undertake DNA-based prenatal diagnosis in subsequent pregnancies at risk for recurrence in both families. We review all previously published ITGA6 and ITGB4 mutation reports to help define genotype-phenotype correlation in this rare genodermatosis.
Original languageEnglish
Pages (from-to)408 - 414
Number of pages7
JournalBritish Journal of Dermatology
Volume144
Issue number2
DOIs
Publication statusPublished - 2001

Fingerprint

Dive into the research topics of 'alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia'. Together they form a unique fingerprint.

Cite this