Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases

Abstract

Noonan syndrome (NS) is a group of inherited autosomal dominant diseases characterized by a disturbance of the RAS-MAPK signaling pathway and leading to various clinical manifestations. The prevalence in the world is estimated at 1–2 per 20 000 newborns. The review discusses the molecular genetic causes of the disease, the characteristics of the clinical manifestations of the disease, and the methods of molecular genetic diagnosis.

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This work was performed as part of the state task of the Ministry of Education and Science of Russia.

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Correspondence to A. A. Orlova.

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The authors declare that they have no conflict of interest. This study does not contain any research involving humans or animals as research objects.

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Orlova, A.A., Dadali, E.L. & Polyakov, A.V. Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases. Russ J Genet 56, 540–547 (2020). https://doi.org/10.1134/S1022795420050117

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Keywords:

  • Noonan syndrome
  • LEOPARD syndrome
  • rasopathies
  • RAS-MAPK signaling pathway
  • PTPN11
  • molecular genetic diagnosis