Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Area of Science:

• Canine genetics
• Dermatology
• Molecular biology

Background:

• Ichthyoses are a group of genetic skin disorders causing epidermal scaling.
• These conditions affect various dog breeds and humans, often with significant clinical impact.

Purpose of the Study:

• To investigate the genetic basis of nonepidermolytic ichthyosis in a Labrador retriever.
• To screen a larger population of Labrador retrievers for a newly identified genetic mutation.

Main Methods:

• Clinical and histopathological examination of affected dogs.
• Whole genome sequencing and digital PCR-based genotyping were employed.
• Population screening of 531 Labrador retrievers was conducted.

Main Results:

• A novel 6099-bp duplication in the PNPLA1 gene was identified in an affected Labrador retriever.
• This duplication is predicted to alter the PNPLA1 protein structure.
• The study found carrier and affected dogs within the screened Labrador retriever population.

Conclusions:

• The identified PNPLA1 genomic duplication is a likely cause of autosomal recessive ichthyosis in Labrador retrievers.
• This finding represents the first report of this specific ichthyosis subtype in the breed.
• Genetic testing can now be developed for this condition, aiding in diagnosis and breeding management.