Regeneron Pharmaceuticals, Inc.
Cornulin (CRNN) Variants And Uses Thereof

Abstract:

The disclosure provides nucleic acid molecules, including cDNA, comprising an alteration that encodes a loss-of-function cornulin (CRNN) protein. The disclosure also provides isolated and recombinant human loss-of-function cornulin protein variants that comprise a truncation at a position corresponding to position 79. The truncation, and the nucleic acid molecules encoding this change, associate with skin disorders such as, for example, psoriasis, eczema, or atopic dermatitis. The disclosure also provides methods for determining whether a subject has or has a risk of developing a skin disorder, based on the identification of such alterations in the nucleic acid molecules encoding CRNN. Subjects at risk for or who have a skin disorder may be treated with an agent effective to treat the skin disorder.