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

ABSTRACT: Background/Objectives: Congenital scoliosis (CS) is a developmental disorder characterized by abnormal vertebral development during embryogenesis. Despite the identification of genes involved in vertebral development, the underlying genetic causes of CS remain largely unknown. Monozygotic (MZ) twins discordant for CS offer a unique opportunity to explore de novo or postzygotic causes. This exploratory case study aimed to investigate potential causative variants underlying CS using whole-exome sequencing (WES). Methods: We performed WES on a Kazakhstani family with MZ twins discordant for congenital scoliosis. Variant prioritization included homozygous mutation analysis in the affected twin, family-based comparisons via de novo, autosomal recessive, and autosomal dominant mode

SUBMITTER: Samarkhanova D 

PROVIDER: S-EPMC12562378 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature