Molecular Genetics of Noonan Syndrome and RASopathies

Jun Liao, Lakshmi Mehta

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations

Abstract

The RAS/MAPK signaling pathway plays an essential role in development and tumorigenesis by regulating cell proliferation, differentiation, apoptosis, migration, and metabolism. Therefore, it is not surprising that germline mutations in genes encoding components or regulators of this signaling pathway cause numerous human genetic conditions, including Noonan syndrome and related disorders. The term "RASopathies" has been used to describe these disorders collectively due to their common underlying RAS/MAPK pathway dysregulation and overlapping clinical features. Taken together, the RASopathies represent one of the most common groups of genetic disorders, affecting approximately 1 in 1,000 individuals. This review describes the RAS/MAPK signaling pathway, summarizes multiple molecular genetic approaches used during the last several decades to discover genes responsible for different RASopathies, and finally focuses on several major disease genes associated with Noonan syndrome and related disorders with regard to genomic locations, structure, mutations, and genotype-phenotype correlations.

Original languageEnglish
Pages (from-to)435-446
Number of pages12
JournalPediatric Endocrinology Reviews
Volume16
DOIs
StatePublished - 1 May 2019

Keywords

  • MAPK pathway
  • Molecular Genetics
  • Noonan
  • PTPN11
  • Rasopathies

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