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 language | English |
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Article number | 116060 |
Journal | Bone |
Volume | 152 |
DOIs | |
State | Published - Nov 2021 |
Bibliographical note
Funding Information:This work was supported by a grant from the National Institutes of Health to J.L.F. ( R56DK084045 ). Additional funding was provided by the University of Kentucky Barnstable Brown Diabetes Center.
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