Global InformationMetachondromatosis information
| Metachondromatosis | |
|---|---|
| Other names | METCDS[1] |
 | |
| Metachondromatosis has an autosomal dominant pattern of inheritance. | |
Metachondromatosis is an autosomal dominant, incompletely penetrant[2] genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests.[3] This syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[4] The disease is thought to affect exon 4 of the PTPN11 gene.[2] Metachondromatosis is believed to be caused by an 11 base pair deletion resulting in a frameshift and nonsense mutation. The disease was discovered and named in 1971 by Pierre Maroteaux, a French physician, when he observed two families with skeletal radiologic features with exostoses and Ollier disease.[5] The observation of one family with five affected people led to the identification of the disease as autosomal dominant.[5] There have been less than 40 cases of the disease reported to date.[6][7]
- ^ "Metachondromatosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 June 2019.
- ^ a b Sobreira NL, Cirulli ET, Avramopoulos D, et al. (2010). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLOS Genet. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. PMC 2887469. PMID 20577567.
- ^ Sobreira, Nara L. M.; Cirulli, Elizabeth T.; Avramopoulos, Dimitrios; Wohler, Elizabeth; Oswald, Gretchen L.; Stevens, Eric L.; Ge, Dongliang; Shianna, Kevin V.; Smith, Jason P.; Maia, Jessica M.; Gumbs, Curtis E. (2010-06-17). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLOS Genetics. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. ISSN 1553-7404. PMC 2887469. PMID 20577567.
- ^ Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.
- ^ a b "OMIM Entry - # 156250 - METACHONDROMATOSIS; METCDS". www.omim.org. Retrieved 2022-03-24.
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