Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

The article presents a cohort study of Italian and Portuguese patients with autosomal recessive congenital ichtyosis (ARCI), defined as a group of heterogeneous cornification disease. It is inferred that about 30-50% if ARCI patients have transglutaminase 1 deficiency due to mutations in TGM1 genes. TGM1 molecular analysis was used in the study. The prevalence of ARCI in Europe is discussed.