Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.

ABSTRACT:

Background

Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacial malformations in mice. Here, we aimed to identify genetic association of TCOF1 with human NTDs.

Methods

High-throughput sequencing targeted on TCOF1 was performed on samples from 355 human cases affected by NTDs and 225 controls from a Han Chinese population.

Results

Four novel missense variants were found in the NTD cohort. Cell-based assays indicated that the p.(A491G) variant carried by an individual, who shows anencephaly and single-nostril abnormality, attenuates prod

SUBMITTER: Wang F 

PROVIDER: S-EPMC10178795 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature