Plectinopathies

Plectin is a giant multifunctional cytolinker protein expressed in virtually all mammalian cell types and tissues. Mutations in the human plectin gene on chromosome 8q24 cause the rare autosomal recessive disorder epidermolysis bullosa simplex with muscular dystrophy. Epidermolysis bullosa simplex with muscular dystrophy patients suffer from severe blistering of skin and mucous membranes and late-onset muscular dystrophy. In addition to the classic epidermolysis bullosa simplex with muscular dystrophy phenotype, plectin mutations have been shown to cause epidermolysis bullosa simplex with muscular dystrophy with a myasthenic syndrome, limb-girdle muscular dystrophy type 2Q, and epidermolysis bullosa simplex with pyloric atresia. The only dominant mutation in the plectin gene identified so far causes epidermolysis bullosa simplex-Ogna, a rare skin blistering disease without muscle involvement. Subtype and disease progression depend upon the specific mutation.