The molecular genetics of RASopathies: An update on novel disease genes and new disorders

Marco Tartaglia, Yoko Aoki, Bruce D. Gelb

研究成果: Review article査読

2 被引用数 (Scopus)


Enhanced signaling through RAS and the mitogen-associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS-MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively controlling RAS function or favoring the efficient transmission of RAS signaling to downstream transducers, functional upregulation of RAS effectors belonging to the MAPK cascade, or inefficient signaling switch-off operated by feedback mechanisms acting at different levels. The massive effort in RASopathy gene discovery performed in the last 20 years has identified more than 20 genes implicated in these disorders. It has also facilitated the characterization of several molecular activating mechanisms that had remained unappreciated due to their minor impact in oncogenesis. Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., Noonan syndrome as a recessive disease) and allowed to profile new RASopathies, novel disease genes and new molecular circuits contributing to the control of RAS-MAPK signaling.

ジャーナルAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
出版ステータスPublished - 2022 12月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)


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