Two Cases of Recessive Intellectual Disability Caused by and Variants.
Fiche publication
Date publication
août 2020
Journal
Genes
Auteurs
Membres identifiés du Cancéropôle Est :
Dr CARAPITO Raphaël
Tous les auteurs :
Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R
Lien Pubmed
Résumé
Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: (c.1966G>A; p.Asp656Asn) and (c.310T>C; p.Phe104Leu). The segregation of the variants was validated by Sanger sequencing in all family members. In silico homology modeling of wild-type and mutated proteins revealed substantial changes in the secondary structure of both proteins, indicating a possible effect on function. The identification and validation of new pathogenic and variants in two cases of autosomal recessive ID further highlight the importance of these genes in proper brain function and development.
Mots clés
METTL23, NDST1, autosomal recessive intellectual disability, exome sequencing
Référence
Genes (Basel). 2020 Aug 31;11(9):