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Article

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Clinical genetics - 1 Apr 2020

Larcher Lise, Buratti Julien, Héron-Longe Bénédicte, Benzacken Brigitte, Pipiras Eva, Keren Boris, Delahaye-Duriez Andrée

Abstract excerpt

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...

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Identifiers

PMID: 31845318
DOI: 10.1111/cge.13688

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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