A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

Summary 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. W...

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Autores:
Tipo de recurso:
Fecha de publicación:
2015
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23667
Acceso en línea:
https://doi.org/10.1111/ced.12627
https://repository.urosario.edu.co/handle/10336/23667
Palabra clave:
Adult
Amplicon
Article
Autosomal recessive congenital ichthyosis
Case report
Exon skipping
Female
Gene
Gene mutation
Gene rearrangement
Genetic counseling
Genotype
Genotype phenotype correlation
Human
Ichthyosis
Intron
Intron retention
Phenotype
Physical examination
Priority journal
Single nucleotide polymorphism
Stop codon
Tgm1 gene
Congenital ichthyosiform erythroderma
Genetic predisposition
Genetics
Mutation
Recessive gene
Rna splicing
Protein glutamine gamma glutamyltransferase
Rna splicing
Transglutaminase 1
Adult
Female
Genetic predisposition to disease
Humans
Mutation
Rna splice sites
Transglutaminases
congenital
recessive
Genes
Ichthyosiform erythroderma
Rights
License
Abierto (Texto Completo)
Description
Summary:Summary 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 multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations. © 2015 British Association of Dermatologists.