Bone health in RASopathies. Issue 4 (2nd December 2022)

• Record Type: Journal Article
• Authors: Stevenson, David A.; Viscogliosi, Germana; Leoni, Chiara
• Other Names: Leoni Chiara guestEditor.; Neri Giovanni guestEditor.
• Is Part Of: American journal of medical genetics. Volume 190:Issue 4(2022)
• Page Start: 459
• Page End: 470
• Publication Date: 2022-12-02
• Subjects: bone density -- fractures -- osteopenia -- personalize medical care -- pseudarthrosis -- RASopathy; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.32020
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations. Osteopenia and osteoporosis are reported in many of the RASopathies suggesting a shared pathogenesis. Even though osteopenia and osteoporosis are often detected and fractures have been reported, the clinical impact of bone mineralization defects on the skeleton of the various syndromes is poorly understood. Further knowledge of the role of the Ras/MAPK pathway on the bone cellular function, and more detailed musculoskeletal phenotyping will be critical in helping to develop therapies to improve bone health in the RASopathies.