Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis

The document describes the discovery of a new mutation in the PNPLA1 gene, c.100A>G, in a Spanish family with autosomal recessive congenital ichthyosis (ARCI). The study involved 18 ARCI families from Galicia, Spain, and identified that the mutation, which alters the patatin domain of the protein, was homozygous in the proband of family 13 and was predicted to be pathogenic. This mutation was not present in a control group of 338 individuals and showed perfect cosegregation with ARCI in the family. The findings suggest that PNPLA1 mutations may be responsible for a small percentage of ARCI cases in the Galician population, although the study's small sample size limits the ability to generalize this prevalence.