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High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

European journal of medical genetics - 1 Oct 2023

Chacon-Camacho O F, Astiazarán M C, Vera-Duarte G, Gutiérrez-Múgica H, Macriz-Romero N, Graue-Hernandez E O, Zenteno J C

Abstract excerpt

Lamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected...

Topics

Humans
Transglutaminases
Mexico
Male
Female
Ichthyosis, Lamellar
Pedigree
Mutation
Genetic Heterogeneity
Adult
Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Founder Effect

Homozygote

Source

Identifiers

PMID: 37709012
DOI: 10.1016/j.ejmg.2023.104842

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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