Rubinstein–Taybi syndrome

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Rubinstein–Taybi syndrome
Classification and external resources
Taybi.jpg
Patient with Rubinstein–Taybi syndrome
ICD-10Q87.2
ICD-9759.89
OMIM180849
DiseasesDB29344
MedlinePlus001249
eMedicinederm/711 ped/2026
MeSHD012415
GeneReviews
 
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Rubinstein–Taybi syndrome
Classification and external resources
Taybi.jpg
Patient with Rubinstein–Taybi syndrome
ICD-10Q87.2
ICD-9759.89
OMIM180849
DiseasesDB29344
MedlinePlus001249
eMedicinederm/711 ped/2026
MeSHD012415
GeneReviews

Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome,[1] is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes inherited as an autosomal dominant pattern and is uncommon, many times it occurs as a de novo (not inherited) occurrence, it occurs in an estimated 1 in 125,000-300,000 births.

Features of Rubinstein–Taybi syndrome[edit]

Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia)

A case was described in 1957 by Michail, Matsoukas and Theodorou.[2] In 1963, Jack Herbert Rubinstein (1925–2006) and Hooshang Taybi (born 1919) described a larger series of cases.[3]

Typical features of the disorder include:

A 2009 study found that children with RTS were more likely to be overweight and to have a short attention span, motor stereotypies, and poor coordination, and hypothesized that the identified CREBBP gene impaired motor skills learning.[7] Other research has shown a link with long-term memory (LTM) deficit.[8][9][10]

Genetics[edit]

Rubinstein–Taybi syndrome is inherited in an autosomal dominant fashion.

Mutations in the CREBBP gene cause Rubinstein–Taybi syndrome.[11] The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB-binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth, leading to the signs and symptoms of Rubinstein–Taybi syndrome.

Mutations in the EP300 gene are responsible for a small percentage of cases of Rubinstein–Taybi syndrome. These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein–Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development.

1 out of 100,000 to 125,000 children are born with RTS.

See also[edit]

References[edit]

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) Rubinstein–Taybi syndrome -180849
  2. ^ Michail J, Matsoukas J, Theodorou S (1957). "[Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms.]". Rev Chir Orthop Reparatrice Appar Mot (in French) 43 (2): 142–6. PMID 13466652. 
  3. ^ Rubinstein JH, Taybi H (June 1963). "Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome". Am. J. Dis. Child. 105: 588–608. PMID 13983033. 
  4. ^ http://www.rubinstein-taybi.org/anesthesia.html
  5. ^ Stirt, J A (1981). "Anesthetic problems in Rubinstein–Taybi syndrome". Anesthesia & Analgesia. 60 (7): 534–6. doi:10.1213/00000539-198107000-00016. 
  6. ^ Dearlove, O R. Perkins, R. (2003). "Anaesthesia in an adult with Rubinstein–Taybi syndrome". British Journal of Anaesthesia 90 (3): 399–400. doi:10.1093/bja/aeg537. PMID 12594162. 
  7. ^ Galéra C, Taupiac E, Fraisse S et al. (2009). "Socio-behavioral sharacteristics of children with Rubinstein–Taybi syndrome". J Autism Dev Disord 39 (9): 1252–1260. doi:10.1007/s10803-009-0733-4. PMID 19350377. 
  8. ^ Bourtchouladze R, Lidge R, Catapano R, Stanley J, Gossweiler S, Romashko D, Scott R, Tully T (2003) A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Proc Natl Acad Sci USA 100:10518-10522.
  9. ^ Alarcon JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A (2004) Chromatin acetylation, memory, and LTP are impaired in CBP+/– mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 42:947-959.
  10. ^ Epigenetics in learning and memory
  11. ^ Petrij F, Giles RH, Dauwerse HG, et al. (July 1995). "Rubinstein–Taybi syndrome caused by mutations in the transcriptional co-activator CBP". Nature 376 (6538): 348–51. Bibcode:1995Natur.376..348P. doi:10.1038/376348a0. PMID 7630403. 

External links[edit]