Article
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Human molecular genetics - 25 Feb 2021
Nabais Sá Maria J, Olson Alexandra N, Yoon Grace, Nimmo Graeme A M, Gomez Christopher M, Willemsen Michèl A, Millan Francisca, Schneider Alexandra, Pfundt Rolph, de Brouwer Arjan P M, Dinman Jonathan D, de Vries Bert B A
Abstract excerpt
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...
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