We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis.
- Authors
Kiener, Sarah; Åhman, Susanne; Cikota, Robert; Jagannathan, Vidhya; Blatter, Sohvi; Cvitas, Iva; Soto, Sara; Leeb, Tosso
- Abstract
This article, published in Animal Genetics, discusses a case study of a Pembroke Welsh Corgi with ichthyosis, a skin disorder characterized by scaly and hyperkeratotic skin. The study used whole-genome sequencing to identify a heterozygous frameshift variant in the ASPRV1 gene, which is responsible for the structural integrity of the outermost layer of the epidermis. The identified variant is likely a de novo mutation and may result in a complete loss of ASPRV1 function. The study highlights the potential of precision medicine in investigating genodermatoses in veterinary medicine.
- Subjects
ICHTHYOSIS; NUCLEOTIDE sequencing; WHOLE genome sequencing; ANIMAL genetics; GOLDEN retriever; FILAGGRIN; KERATIN
- Publication
Animal Genetics, 2024, Vol 55, Issue 3, p490
- ISSN
0268-9146
- Publication type
Article
- DOI
10.1111/age.13423