Noonan Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 11 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.
Prevedello Francesco et al. — American journal of medical genetics. Part A (22 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41866794/
- 2.
Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.
Martineau Romain et al. — Prenatal diagnosis (22 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41866303/
- 3.
Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.
Collins Shane L et al. — Pediatric cardiology (21 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41863590/
- 4.
Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.
Koda Kento et al. — European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41862719/
- 5.
Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
Kocak Eker Hatice et al. — Clinical genetics (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41854160/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Basket Study of Vosoritide in Children With Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
Recruiting — Phase 2 — BioMarin Pharmaceutical
https://clinicaltrials.gov/study/NCT06668805
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Noonan Syndrome
Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It causes distinctive facial features, short stature, heart defects, and developmental delays. It is the second most common syndromic cause of congenital heart disease. MEK inhibitor research is advancing.
Most Recent Research
Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare. We describe the case of a 53-year-old female presenting a severe NS phenotype-including short stature, facial dysmorphism, congenital heart defect, and developmental delay-and concurrent acute myeloid leukemia (AML). Targeted NGS analysis of a RASopathy-specific gene panel identified a constitutional heterozygous PTPN11 variant (c.1472C>T, p.(Pro491Leu)) and a mosaic RIT1 variant (c.229G>C, p.(Ala77Pro), 16.45% VAF), both meeting criteria for pathogenicity. The RIT1 variant was validated via PCR-RFLP across multiple tissues, excluding leukemia-driven clonal expansion, and further quantified by high-depth amplicon-based sequencing. To our knowledge, this case represents a unique example of NS associated with pathogenic variants in two distinct RASopathy genes. Our findings underscore that comprehensive molecular characterization and multi-tissue validation are essential for accurate diagnosis, genetic counseling, and personalized management, while also revealing that combinatorial RAS/MAPK alterations may influence disease severity and clinical outcomes.
Common Questions
What is Noonan Syndrome?
Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It causes distinctive facial features, short stature, heart defects, and developmental delays. It is the second most common syndromic cause of congenital heart disease. MEK inhibitor research is advancing.
How many clinical trials are available for Noonan Syndrome?
RareWays currently indexes 39 clinical trials for Noonan Syndrome, of which 18 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Noonan Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.