Clinical Characteristics and Molecular Basis of Hereditary Skin Diseases in Dogs

Abstract

Genetic skin diseases in dogs are conditions that are inherited, begin during their life (e.g. pruritus), affect the health and welfare of the dog, and recently have become an area of clinical research . The objective of this study was to provide a comprehensive review of canine genetic skin disease at the clinical, molecular, inheritance patterns, and research methodologies levels. The data suggest that dog breeds have distinct phenotypic characteristics, for example, Labrador Retrievers with pathogenic mutations in the PNPLA1 gene have ichthyosis-like scales versus Goldens that have mutations in the ABHD5 gene and have more hyperatic symptoms. Collie Shepherds with a pathogenic mutation in the STS gene, had some similarities and differences (gender differences) but all have X-linked ichthyosis. There are core pathogenic genes including PNPLA1, ABHD5, STS and KRT10 that disrupt the skin functions affecting lipid metabolism (dyslipidemia), keratinocyte abnormal differentiation and barrier difficulties. Modes of inheritance included autosomal recessive, autosomal dominant and x-linked. Useful molecular techniques suggested include whole genome sequencing, exome sequencing, and/or gene chips, combined with cosegregation and or genome wide association studies (GWAS) to identify disease loci. The study presents and supports an evidence-based approach for breed based diagnosis, genetic screening, and selective breeding improvement of canine genetic skin disease.