Family Case Study: Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis

The study aims to identify rare genetic variants potentially contributing to congenital scoliosis (CS) by whole-exome sequencing (WES) in a family with monozygotic twins, one of whom is affected by CS. WES was conducted on both twins, their unaffected parents, and three healthy siblings. This family-based analysis enables the identification of de novo or post-zygotic variants unique to the affected twin. The use of monozygotic twins discordant for a congenital anomaly provides a rare opportunity to investigate the genetic underpinnings of CS while controlling for a shared inherited background. Findings from this study may shed light on novel mechanisms of vertebral development and contribute to our understanding of mosaic or early embryonic mutational events in congenital spinal malformations.