Weaver syndrome
From Wikipedia, the free encyclopedia
| Weaver syndrome of the face | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q87.3 |
| OMIM | 277590 |
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974.[1]
It can be associated with NSD1.[2] A second gene Histone-lysine N-methyltransferase has also been associated with this disease.[3]
[edit] EZH2
Mutations in EZH2 cause Weaver Syndrome.[4]
[edit] See also
[edit] References
- ^ Weaver DD, Graham CB, Thomas IT, Smith DW (1974). "A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and al=J. Pediatr.". The Journal of Pediatrics 84 (4): 547–52. doi:10.1016/S0022-3476(74)80675-X. PMID 4366187.
- ^ Douglas J, Hanks S, Temple IK, et al. (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes". Am. J. Hum. Genet. 72 (1): 132–43. doi:10.1086/345647. PMC 378618. PMID 12464997. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=378618.
- ^ Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte SD, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple IK, Cole T, Childhood Overgrowth Collaboration T, Douglas J, Rahman N (2011) Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget
- ^ Gibson, William T; Hood Rebecca L, Zhan Shing Hei, Bulman Dennis E, Fejes Anthony P, Moore Richard, Mungall Andrew J, Eydoux Patrice, Babul-Hirji Riyana, An Jianghong, Marra Marco A, , Chitayat David, Boycott Kym M, Weaver David D, Jones Steven J M (Dec. 2011). "Mutations in EZH2 Cause Weaver Syndrome" (in ENG). American journal of human genetics. doi:10.1016/j.ajhg.2011.11.018. PMID 22177091.
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