Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

ABSTRACT:

Introduction

Idiopathic scoliosis (IS) is a complex spinal deformity affecting ~3% of the population, with a multifactorial and genetically heterogeneous origin. This study aimed to investigate the genetic origins of severe IS by examining both constitutional and post-zygotic alterations.

Methods

We analyzed 70 unrelated IS-affected individuals using whole exome sequencing (WES) and SNP array approaches on intraoperatively collected articular processes and blood samples.

Results

Two pathogenic constitutional copy number variants (CNVs) were identified - a 43.6 Mb duplication on chromosome 8p and trisomy X - along with eight regions of homozygosity (ROH) located on chromosomes 1, 2, 8, 12, 14, and 16, absent in ethnically matched controls. Additionally, a heterozygous

SUBMITTER: Horbacz M 

PROVIDER: S-EPMC12592074 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature