EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

ABSTRACT:

Background

An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients.

Results

21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behav

SUBMITTER: Huffmeier U 

PROVIDER: S-EPMC7977188 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature