Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

ABSTRACT:

Background

Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening.

Methods

In this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited.

Results

After ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out o

SUBMITTER: Zhao S 

PROVIDER: S-EPMC7802082 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature