Ichthyosis 1

Summary

Ichthyosis 1 is part of a group of skin conditions characterised by dryness and scaling. Ichthyosis 1 in Golden Retrievers is caused by a mutation in the PNPLA1 gene and causes progressive skin scaling, flaking, itching and hair loss from as young as a few weeks of age. The mutation is believed to affect the skin by compromising the protective oil barrier and disrupting skin cell turnover.

Ichthyosis 1 is an autosomal recessive disorder. Autosomal disorders are equally likely to affect male or female dogs, while "recessive" means that a dog needs to inherit the mutation from both its parents to be affected. Dogs with two copies of the ichthyosis 1 mutation are likely to develop the condition, although severity and the age where symptoms appear is variable.

Gene or region and technical reference

Gene: PNPLA1 (causative). Reference: Grall et al. (2012)

Reported alleles

n. Test developed using artificial DNA and animal controls.

Ich1. Test developed using artificial DNA and animal carriers.

Panels: groups of tests that are often ordered together

This test is not in any panels.