Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy

Abstract

Abstract

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa

“…ITGB4‐ associated autosomal dominant EB, as demonstrated in the family presented here, has only been reported in three families previously (Table S1). 4,5 As observed in these cases, autosomal dominant EB caused by heterozygous pathogenic variants in ITGB4 consistently exhibits a mild phenotype, characterized by early onset nail dystrophy, late‐onset mild acral blistering, and sometimes extracutaneous hypergranulation tissue. Pyloric atresia has never been reported in the affected individuals.…”

“…Pyloric atresia has never been reported in the affected individuals. Of note, to date, all the reported pathogenic variants of ITGB4 (c.433G>T, c.433G>C, and c.512T>A) associated with autosomal dominant EB are located within the integrin β4 extracellular von Willebrand factor A (VWFA) domain 4,5 . The position 433 of exon 5 in ITGB4 seems to be a mutation hotspot for autosomal dominant EB worldwide.…”

“…Of note, to date, all the reported pathogenic variants of ITGB4 (c.433G>T, c.433G>C, and c.512T>A) associated with autosomal dominant EB are located within the integrin β4 extracellular von Willebrand factor A (VWFA) domain. 4,5 The position 433 of exon…”