Rubinstein-Taybi syndrome (RTS):
- is a rare disorder characterized
by mental and physical retardation, typical facies, and short and broad thumbs
and halluces (1)
- a reported incidence of 1 in 125 000 people
- also cardiac, neurologic, ocular, and skeletal abnormalities may occur
of RTS has recently been clarified
- previously this disorder was previously believed to be inherited as X-linked with heterozygous females being more mildly affected (2,3)
- an autosomal dominant mutation is now believed to be the
most probable cause of RTS
- in studies, many RTS patients have been shown
to have molecular mutations or microdeletions of chromosome 16p13.3. This region
contains the gene for the human cAMP response element binding (CREB) protein (CBP)
- CBP is an important regulatory protein within the cell and interacts with a myriad of other such proteins
- however this mutation or microdeletion is only found in a minority of RTS cases (4-25%) (1)
- in studies, many RTS patients have been shown to have molecular mutations or microdeletions of chromosome 16p13.3. This region contains the gene for the human cAMP response element binding (CREB) protein (CBP)
for rare cases, no phenotype-genotype correlation between RTS patients with or
without deletion was detected and therefore normal fluorescent in situ hybridization
(FISH) results, do not exclude the diagnosis of RTS (1)
- in a study by Wallerstein et al (4), growth retardation, nevus flammeus, coloboma, and hypotonia were found to have positive predictive value for the presence of deletion
- Balci S et al. A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. Pediatr Dermatol. 2004 Jan-Feb;21(1):44-7.
- Marion RW et al. Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. 1993 May 15;46(3):284-7.
- Brewster TG et al.Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.Am J Med Genet. 1985 Feb;20(2):249-54.
- Wallerstein R, Anderson CE, Hay B, et al. Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. J Med Genet 1997;34: 203-206.
Last reviewed 01/2018