Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.

ABSTRACT:

Background

Congenital scoliosis (CS) is a spinal deformity due to vertebral malformations. Although insufficiency of TBX6 dosage contributes to a substantial proportion of CS, the molecular etiology for the majority of CS remains largely unknown. TBX6-mediated genes involved in the process of somitogenesis represent promising candidates.

Methods

Individuals affected with CS and without a positive genetic finding were referred to this study. Proband-only exome sequencing (ES) were performed on the recruited individuals, followed by analysis of TBX6-mediated candidate genes, namely MEOX1, MEOX2, MESP2, MYOD1, MYF5, RIPPLY1, and RIPPLY2.

Results

A total of 584 patients with CS of unknown molecular etiology were recruited. After ES analysis, protein-truncating variants in

SUBMITTER: Yang Y 

PROVIDER: S-EPMC7549550 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature