Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.

Source: The American Journal of Human Genetics - June 7, 2020 Category: Genetics & Stem Cells Authors: Lynn M. Boyden, Jing Zhou, Ronghua Hu, Theodore Zaki, Erin Loring, Jared Scott, Heiko Traupe, Amy S. Paller, Richard P. Lifton, Keith A. Choate Tags: Report Source Type: research