ArticleEuropean journal of human genetics : EJHG2017
Genotype and phenotype spectrum of NRAS germline variants.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 55 citations in OpenAlex.
- IsolatedHaematologica · 2026Article
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- Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.Prenatal diagnosis · 2026Review
- Ras-MAPK pathway in patients with lupus nephritis.Lupus science & medicine · 2025Article
- Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.Frontiers in genetics · 2025Article
- Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.Journal of clinical immunology · 2024Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.Human genomics · 2023Article
- Engineering Small Molecule Switches of Protein Function in Zebrafish Embryos.Journal of the American Chemical Society · 2023Article
- Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?Clinical case reports · 2022Article
- Review
- Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.Genome biology · 2022Article
- Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.Frontiers in endocrinology · 2022Review
- Article
- Anticancer drug resistance: An update and perspective.Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy · 2021Review
- Sperm mosaicism: implications for genomic diversity and disease.Trends in genetics : TIG · 2021Review
- Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.Clinical case reports · 2021Article
- Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.Brain sciences · 2021Article
- Ras Variant Biology and Contributions to Human Disease.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Embryonic Expression of NrasFrontiers in cell and developmental biology · 2021Article
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Authors and funding
26 authors at 19 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). A small number of RASopathy cases with disease-causing germline NRAS alterations have been reported. Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS. Importantly, four of them harbored missense changes affecting Gly12, which was previously described to occur exclusively in cancer. The phenotype in our cohort was variable but well within the RASopathy spectrum. Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.