Noonan syndrome: genetics and pathology

Evidence-based neurology checklist on noonan syndrome: genetics and pathology: Genetic mutations PTPN11: this is allelic with LEOPARD syndrome KRAS SOS1 NRAS RAF1 BRAF SHOC2 MEK1 CBL LZTR1 RIT1 Pathology Acronym

Genetic mutations

  • PTPN11: this is allelic with LEOPARD syndrome
  • KRAS
  • SOS1
  • NRAS
  • RAF1
  • BRAF
  • SHOC2
  • MEK1 
  • CBL 
  • LZTR1
  • RIT1

Pathology

Acronym

References

  1. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25:161-179.
  2. Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842. 
  3. Narumi Y, Aoki Y, Niihori T, et al. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet 2008; 53:834-841. 
  4. Tidyman WE, Rauen KA. Expansion of the RASopathies. Curr Genet Med Rep 2016; 4:57-64.
  5. Yaoita M, Niihori T, Mizuno S, et al. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet 2016; 135:209-222.

Related checklists

Loading...