Rubinstein–Taybi syndrome
| Rubinstein–Taybi syndrome | |
|---|---|
| Other names | Broad thumb-hallux syndrome or Rubinstein syndrome[1] |
| Child displaying characteristic facial features of Rubinstein–Taybi syndrome | |
| Specialty | Medical genetics |
| Causes | mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome 22. |
Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.[2] Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome 22.[3]
This condition is sometimes inherited as an autosomal dominant pattern, but often as a de novo. It affects an estimated 1 in 125,000-300,000 births.
- ^ Online Mendelian Inheritance in Man (OMIM): Rubinstein–Taybi syndrome - 180849
- ^ Petrij, F; Dauwerse, HG; Blough, RI; Giles, RH; van der Smagt, JJ; Wallerstein, R; Maaswinkel-Mooy, PD; van Karnebeek, CD; van Ommen, GJ; van Haeringen, A; Rubinstein, JH; Saal, HM; Hennekam, RC; Peters, DJ; Breuning, MH (March 2000). "Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations". Journal of Medical Genetics. 37 (3): 168–76. doi:10.1136/jmg.37.3.168. PMC 1734540. PMID 10699051.
- ^ López M, García-Oguiza A, Armstrong J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V, Domínguez-Garrido E (2018). "Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum". BMC Medical Genetics. 19 (1): 36. doi:10.1186/s12881-018-0548-2. PMC 5839060. PMID 29506490. Article No. 36.