Noonan syndrome an overview and a case description from Astana, Kazakhstan

Синдром Нунан: обзор и описание клинического случая в Астане, Казахстан
Sholpan Kairmukhanova 1, Adila Izgutdina 2, Galymzhan Kuatbay 2
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1 Department of pediatrics, Republican diagnostic center of the corporate fund «UMC», Astana, Kazakhstan
2 Nazarbayev University School of Medicine, 3rd year student, Astana, Kazakhstan
J CLIN MED KAZ, Volume 3, Issue 45 special issue, pp. 118-120. https://doi.org/10.23950/1812-2892-JCMK-00491
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ABSTRACT

Noonan syndrome is an autosomal dominant genetic disorder characterized by facial dysmorhpic features, short stature and heart defects, such as pulmonary valve stenosis and heart hypertrophy (Roberts et al., 2013). The pathologic features are caused by the genetic mutations in the RAS-MAPK pathway signaling proteins, such as PTPN11. These mutations also predispose Noonan patients to risks of developing cardiovascular, myeloproliferative, lymphatic system disorders. Therefore we recommend raising awareness and increasing vigilance for these cases as the Noonan syndrome patients require special care of a multidisciplinary team of healthcare professionals to address their multiple health concerns and improve their outcomes.
Keywords: Noonan syndrome, rare disease, genetic disease, RAS-MAPK mutation, PTPN11 mutation, Noonan Syndrome in Kazakhstan, rare diseases in Kazakhstan

CITATION

Kairmukhanova S, Izgutdina A, Kuatbay G. Noonan syndrome an overview and a case description from Astana, Kazakhstan. Journal of Clinical Medicine of Kazakhstan. 2017;3(45 special issue):118-20. https://doi.org/10.23950/1812-2892-JCMK-00491

REFERENCES

  • Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., Hoshika, T. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. The American Journal of Human Genetics. 2013; 93(1):173-180.
  • Roberts, A. E., Allanson, J. E., Tartaglia, M., & Gelb, B. D. Noonan syndrome. The Lancet. 2013; 381(9863): 333-342.
  • Van der Burgt, I. Noonan syndrome. Orphanet journal of rare diseases. 2007; 2(1)/