| H00504 | |
| H number | H00504 |
| Name | Rubinstein-Taybi syndrome |
| Description | Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome. |
| Category | Congenital malformation |
| Network | nt06523(H00504) Epigenetic regulation by Polycomb complexes |
| Gene | (RSTS1) CREBBP [HSA:1387] [KO:K04498] (RSTS2) EP300 [HSA:2033] [KO:K04498] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.2 MeSH: D012415 OMIM: 180849 613684 |
| Reference | PMID:7630403 (CREBBP) AUTHORS Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. TITLE Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. JOURNAL Nature 376:348-51 (1995) DOI:10.1038/376348a0 PMID:17220215 (EP300) AUTHORS Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ TITLE Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. JOURNAL J Med Genet 44:327-33 (2007) DOI:10.1136/jmg.2006.046698 PMID:16021471 AUTHORS Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S TITLE DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. JOURNAL Hum Genet 117:485-93 (2005) DOI:10.1007/s00439-005-1331-y PMID:17942008 AUTHORS Roelfsema JH, Peters DJ TITLE Rubinstein-Taybi syndrome: clinical and molecular overview. JOURNAL Expert Rev Mol Med 9:1-16 (2007) DOI:10.1017/S1462399407000415 |