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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
Authors:Nacim Louhichi  Ikhlass Hadjsalem  Slaheddine Marrakchi  Fatma Trabelsi  Abderrahmen Masmoudi  Hamida Turki  Faiza Fakhfakh
Institution:1. Human Molecular Genetic Laboratory, Faculty of Medicine of Sfax, Avenue Magida Boulila, 3029, Sfax, Tunisia
2. Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia
Abstract:Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI. In this study molecular analysis of two LI Tunisian patients revealed a common nonsense c.788G>A mutation in TGM1 gene. The identification of a cluster of LI pedigrees carrying the c.788G>A mutation in a specific area raises the question of the origin of this mutation from a common ancestor. We carried out a haplotype-based analysis by way of genotyping 4 microsatellite markers and 8 SNPs flanking and within the TGM1 gene spanning a region of 6 Mb. Haplotype reconstruction from genotypes of all members of the affected pedigrees indicated that all carriers for the mutation c.788G>A harbored the same haplotype, indicating common ancestor. The finding of a founder effect in a rare disease is essential for the genetic diagnosis and the genetic counselling of affected LI pedigrees in Tunisia.
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