High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.

Abstract excerpt

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) are inherited disorders produced by mutations in essential genes for the skin function. A low prevalence of this disease has been resported worldwide; however, in a recent study, we identified a large cluster of ARCI families who resided in the High Mountains Region from the Veracruz State, Mexico. Thus, we aimed to identify the causative mutation of...

Topics

• Founder Effect
• Genes, Recessive
• Humans
• Ichthyosis, Lamellar
• Mexico
• Mutation
• Pedigree
• Prevalence
• Transglutaminases