Rubinstein-Taybi LPU 023 - Detail

Rubinstein-Taybi is a well-defined condition characterised by short stature, mental retardation, facial abnormalities, and broad thumbs and first toes¹.

This condition was syndrome described in 1963 and is an autosomal-dominant disease with a frequency of one individual in 100,000 newborns. Chromosome band 16p13.3 contains the Rubinstein-Taybi syndrome locus, which includes a gene encoding a binding protein for cyclic adenosine monophosphate-response element binding protein (CBP, CREBBP). This gene spans approximately 150Kb with 31 exons², and dosage abnormalities are the common cause of the disease³. Disruptions of CREBBP, either by gross chromosomal rearrangement or point mutation, are responsible for the phenotype of Rubinstein-Taybi syndrome. Microdeletions including the CREBBP gene account for about 10-15% of RTS cases⁴.

References:

1. Rubinstein JH, Taybi H, Am J Dis Child 1963;105:588-608
2. Petrij F et al., J Med Genet 2000;37(3):168-76
3. Stef M et al., Eur J Hum Genet 2007;15(8):843-7
4. Bartsch O et al., Eur J Hum Genet 1999;7(7):748-56