Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

We report the first cases of autosomal-recessive EBS from P1a deficiency affecting skin, while mucous membranes, heart and muscle are spared. The dominant expression of the P1a isoform in epidermal basal cell layer and cultured keratinocytes suggests that mutations in the first exon of isoform 1a cause skin-only EBS without extracutaneous involvement. Our study characterizes yet another of the eight isoforms of plectin and adds a tissue-specific phenotype to the spectrum of ‘plectinopathies' produced by mutations of unique first exons of this gene.

Source: Human Molecular Genetics - May 8, 2015 Category: Genetics & Stem Cells Authors: Gostyłska, K. B., Nijenhuis, M., Lemmink, H., Pas, H. H., Pasmooij, A. M. G., Lang, K. K., Castanon, M. J., Wiche, G., Jonkman, M. F. Tags: ARTICLES Source Type: research