Noonan Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.
Salvadores-Álvarez Victoria et al. — International journal of laboratory hematology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41466533/
- 2.
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/
- 3.
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/
- 4.
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/
- 5.
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/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
DAY101 vs. Standard of Care Chemotherapy in Pediatric Participants With Low-Grade Glioma Requiring First-Line Systemic Therapy (LOGGIC/FIREFLY-2)
Recruiting — Phase 3 — Day One Biopharmaceuticals, Inc.
https://clinicaltrials.gov/study/NCT05566795
- 2.
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
CBL syndrome is caused by a heterozygous germline mutation in the CBL gene. It is a rare RASopathy that shares many clinical features with mild forms of Noonan syndrome. These patients have a higher risk of developing juvenile myelomonocytic leukaemia (JMML) during early childhood. Here we report a case of an 11-month-old infant with JMML and CBL syndrome. It was caused by a heterozygous de novo germline mutation in the CBL gene and acquired biallelic inactivation of the gene through copy-neutral loss of heterozygosity (CN-LOH) in haematological cells. CBL mutation was not found in parents and siblings. CN-LOH was confirmed by single nucleotide polymorphism array. This patient presented with an aggressive clinical course and required an allogeneic stem cell transplant.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.