Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.

ABSTRACT:

Background

Adolescent idiopathic scoliosis (AIS) is a genetically heterogeneous disease characterised by three-dimensional deformity of the spine in the absence of a congenital spinal anomaly or neurological musculoskeletal disorder. The clinical variability and incomplete penetrance of some genes linked with AIS indicate that this disease constitutes an oligogenic trait.

Objective

We aimed to explore the oligogenic nature of this disease and identify novel AIS genes.

Methods

We analysed rare damaging variants within AIS-associated genes by using exome sequencing in 40 AIS trios and 183 sporadic patients.

Results

Multiple variants within AIS-associated genes were identified in eight AIS trios, and five individuals harboured rare damaging variants in the FLNB

SUBMITTER: Jiang H 

PROVIDER: S-EPMC7279190 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature