How to Cite this Article: Collinson M, Leonard SJ, Charlton J, Crolla JA, Silve C, Hall CM, Oglivie C, James MA, Smithson SF. 2010. Symmetrical Enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. Am J Med Genet Part A 152A:3124–3128.
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH†
Article first published online: 16 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3124–3128, December 2010
How to Cite
Collinson, M., Leonard, S. J., Charlton, J., Crolla, J. A., Silve, C., Hall, C. M., Oglivie, C., James, M. A. and Smithson, S. F. (2010), Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. Am. J. Med. Genet., 152A: 3124–3128. doi: 10.1002/ajmg.a.33567
- Issue published online: 23 NOV 2010
- Article first published online: 16 NOV 2010
- Manuscript Accepted: 26 MAY 2010
- Manuscript Received: 1 MAR 2010
- novo duplication of chromosome 12p11.23 to 12p11.22
We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in brachydactyly type E. Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited. © 2010 Wiley-Liss, Inc.