Nature Communications (Apr 2018)
Somatic activating mutations in MAP2K1 cause melorheostosis
- Heeseog Kang,
- Smita Jha,
- Zuoming Deng,
- Nadja Fratzl-Zelman,
- Wayne A. Cabral,
- Aleksandra Ivovic,
- Françoise Meylan,
- Eric P. Hanson,
- Eileen Lange,
- James Katz,
- Paul Roschger,
- Klaus Klaushofer,
- Edward W. Cowen,
- Richard M. Siegel,
- Joan C. Marini,
- Timothy Bhattacharyya
Affiliations
- Heeseog Kang
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Smita Jha
- Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Zuoming Deng
- Biodata Mining and Discovery Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Nadja Fratzl-Zelman
- Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, UKH Meidling
- Wayne A. Cabral
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Aleksandra Ivovic
- Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Françoise Meylan
- Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Eric P. Hanson
- Immunodeficiency and Inflammation Unit, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Eileen Lange
- Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- James Katz
- Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Paul Roschger
- Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, UKH Meidling
- Klaus Klaushofer
- Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, UKH Meidling
- Edward W. Cowen
- Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Richard M. Siegel
- Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- Joan C. Marini
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Timothy Bhattacharyya
- Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
- DOI
- https://doi.org/10.1038/s41467-018-03720-z
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 12
Abstract
Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated with increased proliferation but delayed differentiation of cultured osteoblasts.
