Families

Clinical features
Humans have 2 copies of each gene, one from the mother and one from the father. A mutation in both copies of a gene called PERP can lead to birth defects in humans. These birth defects mainly involve the skin, hair, and nails. The most common features are well-demarcated plaques of reddened, thickened, dry skin, thickening of the skin on the palms and soles, and red circular skin lesions. Other features that may be present include inability to sweat, woolly hair, itchiness, and misshapen nails.

Prevalence
Largely unknown due to limited data.

Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.