RASopathies: The musculoskeletal consequences and their etiology and pathogenesis

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations

Abstract

The RASopathies comprise an ever-growing number of clinical syndromes resulting from germline mutations in components of the RAS/MAPK signaling pathway. While multiple organs and tissues may be affected by these mutations, this review will focus on how these mutations specifically impact the musculoskeletal system. Herein, we review the genetics and musculoskeletal phenotypes of these syndromes in humans. We discuss how mutations in the RASopathy syndromes have been studied in translational mouse models. Finally, we discuss how signaling molecules within the RAS/MAPK pathway are involved in normal and abnormal bone biology in the context of osteoblasts, osteoclasts and chondrocytes.

Original languageEnglish
Article number116060
JournalBone
Volume152
DOIs
StatePublished - Nov 2021

Bibliographical note

Publisher Copyright:
© 2021 Elsevier Inc.

Keywords

  • Capillary malformation-arteriovenous malformation syndrome
  • Cardio-facio-cutaneous syndrome
  • Costello syndrome
  • Legius syndrome
  • Neurofibromatosis type 1
  • Noonan syndrome
  • RAS/MAPK pathway

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Histology
  • Physiology

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