Intragenic <i>PNPLA1</i> duplication in Labrador retrievers with nonepidermolytic ichthyosis
Previously identified PNPLA1 variants cause autosomal recessive ichthyosis in golden retrievers and humans. Given the well-established function of PNPLA1, the identified genomic duplication represents a likely candidate causal variant for the observed ichthyosis in the examined Labrador retriever. This is the first report of a new form of autosomal recessive ichthyosis in Labrador retrievers, which provides the basis for genetic testing.
Authors
- Vidhya Jagannathan (ORCID: https://orcid.org/0000-0002-8155-0041)
- Tosso Leeb (ORCID: https://orcid.org/0000-0003-0553-4880)
- Dominique J. Wiener (ORCID: https://orcid.org/0000-0002-1876-4581)
- Angelica Kallenberg (ORCID: https://orcid.org/0000-0001-7993-6597)
- Stefan J. Rietmann (ORCID: https://orcid.org/0009-0004-0932-552X)
- Jennifer Loraine Clegg (ORCID: https://orcid.org/0009-0004-7863-9493)
- Clarissa P. Souza (ORCID: https://orcid.org/0000-0002-9455-7867)
- Robert A. Grahn
Institutions
- University of Bern (CH)
- University of Illinois Urbana-Champaign (US)
- University of California, Davis (US)
- Texas A&M University (US)
Publication Details
- Journal
- Veterinary Dermatology
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1111/vde.13341
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung