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

ABSTRACT:

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 associated with these disorders. Pathogenic variants in its largest subunit ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system.

Methods

Clinical investigation included patient history and physical, neurological and magnetic resonance imaging (MRI) examination. A novel homozygous l

SUBMITTER: Kojic M 

PROVIDER: S-EPMC10290953 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature