Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.

ABSTRACT:

Background

RASopathies represent a group of genetically heterogeneous developmental disorders caused by germline variants in genes regulating the RAS/MAPK signalling pathway. These syndromes share overlapping clinical features, complicating diagnosis. Dysregulation of this pathway disrupts normal development and contributes to diverse phenotypic manifestations. In this study, we conducted a comprehensive clinico-genetic correlation analysis in a North Indian cohort to identify causative genetic variants. As an exploratory approach, we also applied bioinformatic tools to identify potential drug-gene interactions.

Methods

We enrolled 84 patients with clinical suspicion of RASopathy spectrum disorders. Whole exome sequencing (WES) was performed to detect pathogenic variants. Cl

SUBMITTER: Gupta S 

PROVIDER: S-EPMC12643386 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature