Evidence map›Paper›PMID 42274072›Full record

ArticleJournal of genetics2026

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

Ambika Srikanth, Tejashwini Vittal Kumar, Jeevana Praharsha Athota, Monisha Morris, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Sheela Nampoothiri, Dhanya Yeshodharan, Kalpana Gowrishankar, Gautham Arunachal and 1 more

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Article in Journal of genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Ambika SrikanthMolecular Genetics, Centre for Human Genetics, Bengaluru 560 100, India. swathi@chg.res.in.
Tejashwini Vittal Kumar
Jeevana Praharsha Athota
Monisha Morris
Meenakshi Bhat
Sanjeeva Ghanti Narayanachar
Sheela Nampoothiri
Dhanya Yeshodharan
Kalpana Gowrishankar
Gautham Arunachal
Swathi Shetty

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 a multigene panel comprising of 21 RASopathy genes. Molecular analysis revealed variations in 74 individuals (57%). Pathogenic or likely pathogenic variations were observed in 60/74 (81%) of the cases, 13 (17.5%) had variant(s) of uncertain significance (VUS), and one novel variant was identified in RASA2 whose pathogenicity has not yet been established. In individuals with Noonan Syndrome, pathogenic variants were identified in eight different genes mainly

Indexed as

Costello SyndromeEctodermal DysplasiaFailure to ThriveHeart Defects, CongenitalNoonan SyndromeProto-Oncogene Proteins p21(ras)ras ProteinsChildChild, PreschoolCohort StudiesFaciesFemaleGenetic VariationHigh-Throughput Nucleotide SequencingHumansIndiaBRAF protein, humanHRAS protein, humanMAP2K1 protein, humanMAP Kinase Kinase 1MAP Kinase Kinase 2Protein Tyrosine Phosphatase, Non-Receptor Type 11Proto-Oncogene Proteins B-rafProto-Oncogene Proteins c-rafProto-Oncogene Proteins p21(ras)PTPN11 protein, humanRaf1 protein, humanras ProteinsSOS1 ProteinSOS1 protein, humanTranscription Factors

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PMID42274072

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