Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis

Abstract

Ichthyoses comprise a large, heterogeneous group of inherited cornification disorders. They are characterized by generalized scaly and hyperkeratotic skin (Oji et al., 2010). In humans, over 69 genes have been associated with different forms of ichthyosis, grouped into non-syndromic ichthyoses with the phenotypic expression of the disorder only seen in the skin, and syndromic ichthyoses that show additional organ involvement (Gutiérrez-Cerrajero et al., 2023;Uitto et al., 2020). Further subdivision into epidermolytic and non-epidermolytic ichthyoses is based on the presence or absence of light microscopic findings of vacuoles and