301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

Abstract

Plectin, a cytoskeletal linker and intermediate filament protein ubiquitously expressed in many cell types, is encoded by PLEC. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the rod domain, and the C-terminal domain. Molecular defects in PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb girdle muscular dystrophy (LGMD), and an autosomal recessive form of epidermolysis bullosa simplex (EBS), which may associate with muscular dystrophy (EBS–MD), pyloric atresia (EBS–PA), and/or congenital myasthenic syndrome (EBS-MyS).