189 A novel PLEC isoform modifies the phenotype in epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is caused by autosomal recessive and dominant mutations in PLEC in 8% of all cases. In humans, eight distinct plectin isoforms have been identified arising from tissue specific translation, differing in the first exon. Additionally, alternative splicing of exon 31 results in a rodless plectin variant, seen in patients affected with EBS with muscular dystrophy (EBS-MD). Complete absence of plectin leads to a severe phenotype with generalized blistering and pyloric atresia (EBS-PA), and early mortality.

Source: Journal of Investigative Dermatology - August 16, 2016 Category: Dermatology Authors: K.B. Gostynska, H. Lemmink, J. Bremer, H. Pas, M. Nijenhuis, P. van den Akker, R. Sinke, M. Jonkman, M. Pasmooij Tags: Genetics and Cell Based Therapy Source Type: research