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Article

Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.

Journal of genetics - 1 Jan 2026

Srikanth Ambika, Kumar Tejashwini Vittal, Athota Jeevana Praharsha, Morris Monisha, Bhat Meenakshi, Narayanachar Sanjeeva Ghanti, Nampoothiri Sheela, Yeshodharan Dhanya, Gowrishankar Kalpana, Arunachal Gautham, Shetty Swathi

Abstract excerpt

RASopathies are a group of developmental disorders caused by variations in genes of the RAS/mitogen activated protein kinase (MAPK) pathway and affect 1 in 1000 individuals worldwide. Due to overlapping clinical features, accurate diagnosis is challenging and therefore we used next-generation sequencing (NGS) panels as an effective molecular diagnostic tool. Targeted sequencing was performed on 130 samples using...

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Source

Identifiers

PMID: 42274072

Genes

BRAF
HRAS
LZTR1
MAP2K1
MAP2K2
PTPN11
RAF1
RASA2
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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