Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis.

ABSTRACT:

Background

Scoliosis is the most common paediatric spinal deformity. More than 80% of scoliosis is idiopathic and appears during the adolescent growth spurt. Spinal fusion surgery is often required for patients with progressive adolescent idiopathic scoliosis (AIS), and the genetic risk factors for severe disease (defined here as curve >35 degrees) are largely unknown.

Methods

To explore the role of rare variants in severe AIS, exome sequence data from 1221 individuals with AIS were compared with both 1397 in-house European ancestry controls and 56885 gnomAD non-Finish European controls. Segregation analysis of variants in prioritised genes was performed in additional family members. A replication study was performed using the Geisinger MyCode cohort. FNDC1 function w

SUBMITTER: Charng WL 

PROVIDER: S-EPMC12187536 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature