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Article

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.

Journal of human genetics - 1 Jul 2023

Kojic Marija, Abbassi Nour E H, Lin Ting-Yu, Jones Alun, Wakeling Emma L, Clement Emma, Nakou Vasiliki, Singleton Matthew, Dobosz Dominika, Kaliakatsos Marios, Glatt Sebastian, Wainwright Brandon J

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability and social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulating evidence suggest that the Elongator complex plays a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36864284
DOI: 10.1038/s10038-023-01135-3
PMCID: PMC10290953

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