De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
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ABSTRACT:
SUBMITTER: Nabais Sa MJ
PROVIDER: S-EPMC7907856 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Publications
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Nabais Sá Maria J MJ Olson Alexandra N AN Yoon Grace G Nimmo Graeme A M GAM Gomez Christopher M CM Willemsen Michèl A MA Millan Francisca F Schneider Alexandra A Pfundt Rolph R de Brouwer Arjan P M APM Dinman Jonathan D JD de Vries Bert B A BBA
Human molecular genetics 20210201 24
Eukaryotic translation elongation factor 2 (eEF2) is a key regulatory factor in gene expression that catalyzes the elongation stage of translation. A functionally impaired eEF2, due to a heterozygous missense variant in the EEF2 gene, was previously reported in one family with spinocerebellar ataxia-26 (SCA26), an autosomal dominant adult-onset pure cerebellar ataxia. Clinical exome sequencing identified de novo EEF2 variants in three unrelated children presenting with a neurodevelopmental disor ...[more]
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