Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
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ABSTRACT:
SUBMITTER: Boyden LM
PROVIDER: S-EPMC7332602 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden Lynn M LM Zhou Jing J Hu Ronghua R Zaki Theodore T Loring Erin E Scott Jared J Traupe Heiko H Paller Amy S AS Lifton Richard P RP Choate Keith A KA
American journal of human genetics 20200608 1
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 proc ...[more]
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