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Article

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Molecular biology reports - 1 Mar 2013

Louhichi Nacim, Hadjsalem Ikhlass, Marrakchi Slaheddine, Trabelsi Fatma, Masmoudi Abderrahmen, Turki Hamida, Fakhfakh Faiza

Abstract excerpt

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...

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Identifiers

PMID: 23192619
DOI: 10.1007/s11033-012-2333-1
PMCID: PMC3563951

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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