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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Lam, WWK; Millichap, JJ; Soares, DC; Chin, R; McLellan, A; FitzPatrick, DR; Elmslie, F; Lees, MM; Schaefer, GB; DDD study, ; et al. Lam, WWK; Millichap, JJ; Soares, DC; Chin, R; McLellan, A; FitzPatrick, DR; Elmslie, F; Lees, MM; Schaefer, GB; DDD study; Abbott, CM (2016) Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Mol Genet Genomic Med, 4 (4). pp. 465-474. https://doi.org/10.1002/mgg3.219
SGUL Authors: Elmslie, Frances

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Abstract

BACKGROUND: Exome sequencing has led to the discovery of mutations in novel causative genes for epilepsy. One such gene is EEF1A2, encoding a neuromuscular specific translation elongation factor, which has been found to be mutated de novo in five cases of severe epilepsy. We now report on a further seven cases, each with a different mutation, of which five are newly described. METHODS: New cases were identified and sequenced through the Deciphering Developmental Disabilities project, via direct contact with neurologists or geneticists, or recruited via our website. RESULTS: All the mutations cause epilepsy and intellectual disability, but with a much wider range of severity than previously identified. All new cases share specific subtle facial dysmorphic features. Each mutation occurs at an evolutionarily highly conserved amino acid position indicating strong structural or functional selective pressure. CONCLUSIONS: EEF1A2 should be considered as a causative gene not only in cases of epileptic encephalopathy but also in children with less severe epilepsy and intellectual disability. The emergence of a possible discernible phenotype, a broad nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth may help in identifying patients with mutations in EEF1A2.

Item Type: Article
Additional Information: © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Autism, EEF1A2, epilepsy, intellectual disability, translation elongation, DDD study
Journal or Publication Title: Mol Genet Genomic Med
Language: eng
Dates:
DateEvent
18 July 2016Published
3 April 2016Published Online
16 February 2016Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
098051Wellcome TrustUNSPECIFIED
PubMed ID: 27441201
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/108693
Publisher's version: https://doi.org/10.1002/mgg3.219

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