New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Child
Child, Preschool
Consanguinity
Female
Genetic Predisposition to Disease
Guanine Nucleotide Exchange Factors
/ genetics
Homozygote
Humans
Intellectual Disability
/ genetics
Loss of Heterozygosity
/ genetics
Male
Mutation
Neurodevelopmental Disorders
/ genetics
Pedigree
Peptide Elongation Factor 1
/ genetics
Siblings
eEF1B2
eukaryotic translation machinery
intellectual disability
neurodevelopmental disorders
seizures
variant spectrum expansion
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
02
11
2019
revised:
01
12
2019
accepted:
06
12
2019
pubmed:
18
12
2019
medline:
4
6
2021
entrez:
18
12
2019
Statut:
ppublish
Résumé
The guanine exchange factor subunit eEF1Bα encoded by the EEF1B2 gene belongs to the eukaryotic elongation translational machinery. Pathogen variants in genes of the translational machinery have been associated with several neurodevelopmental disorders. However, only one family of three siblings with intellectual disability (ID) has been reported so far with a homozygous variant in EEF1B2. Here, we report a second family with a novel homozygous loss of function (LoF) variant p.(Ser128*), carried by two siblings with moderate ID and seizures. Our findings confirm the role of EEF1B2 variants in the pathogenesis of autosomal-recessive ID, expand the variant spectrum and precisely describe the clinical consequences of the LoF of EEF1B2.
Substances chimiques
Guanine Nucleotide Exchange Factors
0
Peptide Elongation Factor 1
0
eEF1B-beta protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
639-643Informations de copyright
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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