Article
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Clinical and experimental dermatology - 1 Oct 2015
Ortega-Recalde O, Moreno M B, Vergara J I, Fonseca D J, Rojas R F, Mosquera H, Medina C L, Restrepo C M, Laissue P
Abstract excerpt
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of...
Topics
- Adult
- Female
- Genes, Recessive
- Genetic Predisposition to Disease
- Humans
- Ichthyosiform Erythroderma, Congenital
- Mutation
- RNA Splice Sites
- Transglutaminases