Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Int J Dermatol
; 56(5): 514-523, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28236338
ABSTRACT
BACKGROUND:
Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being more frequently uncovered in particular populations.METHODS:
In this study, we used whole exome sequencing as well as direct Sanger sequencing to uncover four novel mutations in ARCI-related genes, which were found in families from the United Arab Emirates. In silico tools such as CADD and SIFT Indel were used to predict the functional consequences of these mutations.RESULTS:
The here-presented mutations occurred in three genes (ALOX12B, TGM1, ABCA12), and these are a mixture of missense and indel variants with damaging functional consequences on their encoded proteins.CONCLUSIONS:
This study presents an overview of the mutations that were found in ARCI-related genes in Arabs and discusses molecular and clinical details pertaining to the above-mentioned Emirati cases and their novel mutations with special emphasis on the resulting protein changes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Araquidonato 12-Lipoxigenase
/
Transglutaminases
/
Ictiose Lamelar
/
Transportadores de Cassetes de Ligação de ATP
/
Árabes
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Int J Dermatol
Ano de publicação:
2017
Tipo de documento:
Article