The Rubinstein-Taybi Syndrome Or a Broad Thumb-Hallux Syndrome
Authors:
J. Hošek 1; A. Borková 2
Authors place of work:
Farmaceutická fakulta, Veterinární a farmaceutická univerzita, Brno
1; Pedagogická fakulta, Masarykova univerzita, Brno
2
Published in the journal:
Čas. Lék. čes. 2008; 147: 136-140
Category:
Review Article
Summary
The Rubinstein-Taybi syndrome (broad thumb-hallux syndrome) is a rare congenital disease with prevalence 1:125,000 of life-born children. It is characterised by multiplex malformations, which includes growth and psychomotor retardation. Up to this date, over 1,000 cases have been described in literature. This review is mainly focused on a description of symptoms, which occur in the syndrome mentioned above and serve as main diagnostic markers. Mutations in the CBP and the p300 genes have been associated with this disease as well. Therefore, substantial part is devoted to aetiology, where emphasis is put on a genetic origin of the Rubinstein-Taybi syndrome. Possibilities of this diagnose are mentioned at the end of the article.
Key worlds:
broad thumb-hallux syndrome, CBP, mental retardation, congenital disorders.
Zdroje
1. Rubinstein, J. H., Taybi, H.: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am. J. Dis. Child., 1963, 105, s. 588–608.
2. Hallam, T. M., Bourtchouladze, R.: Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell. Mol. Life Sci., 2006, 63, s. 1725–1735.
3. Michail, J., Matsouras, J., Theodorou, S.: Pouce bot argue en forte abduction–extension et autres sympyomes concomitants. Rev. Chir. Orthop., 1957, 43, s. 142–146.
4. Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J.: Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am. J. Med. Genet. Suppl., 1990, 6, s. 56–64.
5. Hennekam, R. C. M.: Rubinstein–Taybi syndrome. Europ. J. Hum. Genet., 2006, 14, s. 981–985.
6. Wiley, S., Swayne, S., Rubinstein, J. H. et al.: Rubinstein-Taybi Syndrome Medical Guidelines. Am. J. Med. Genet., 2003, 119A, s. 101–110.
7. Allanson, J. E., Hennekam, R. C. M.: Rubinstein-Taybi Syndrome: Objective Evaluation of Craniofacial Structure. Am. J. Med. Genet., 1997, 71, s. 414–419.
8. Stuchlík, J.: Myofunkční terapie (online). Dostupné na World Wide Web: http://www.dentalcare.cz/odbclan.asp?ctid=0&arid =540 (cit. 18. 6. 2007).
9. van Gendren, M. M., Kinds, G. F., Riemslag, F. C. C., Hennekam, R. C. M.: Ocular features in Rubinstein-Taybi syndrome: literature investigation of 24 patients and review of the literature. Br. J. Ophthalmol., 2000, 84, s. 1177–1184.
10. Zucconi, M., Ferini-Strambi, L., Erminio, C. et al.: Obstructive sleep apnea in the Rubinstein-Taybi syndrome. Respiration., 1993, 60, s. 127–132.
11. Allanson, J.: Rubinstein-Taybi syndrome: The changing face. Am. J. Med. Genet. Suppl., 1990, 6, s. 38–41.
12. Hennekam, R. C. M., Tilanus, M., Hamel, B. C. J. et al.: Deletion at Chromosome 16p13.3 as a Cause of Rubinstein-Taybi Syndrome: Clinical Aspects. Am. J. Hum. Genet., 1993, 52, s. 255–262.
13. Villella, A., Bialostocky, D., Lori, E. et al.: Rubinstein-Taybi syndrome with humoral and cellular defects: a case report. Arch. Dis. Child., 2000, 83, s. 360–361.
14. Goodman, R. H., Smolik, S.: CBP/p300 in cell growth, transformation, and development. Genes. Dev., 2000, 14, s. 1553–1577.
15. Narod, S. A., Hawkins, M. M., Robertson, C. M., Stiller, C. A.: Congenital Anomalies and Childhood Cancer in Great Britain. Am. J. Hum. Genet., 1997, 60, s. 474–485.
16. Miller, R. W., Rubinstein, J. H.: Tumors in Rubinstein-Taybi syndrome. Am. J. Med. Genet., 1998, 77, s. 81–82.
17. Šmardová, J., Šmarda, J.: Klinické důsledky mutací genu CBP. Čas. Lék. čes., 1999, 138, s. 739–743.
18. Bartsch, O., Schmidt, S., Richter, M. et al.: DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum. Genet., 2005, 117, s. 485–493.
19. Imaizumi, K., Kuroki, Y.: Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3). Am. J. Med. Genet., 1991, 38, s. 636–639.
20. Lacombe, D., Saura, R., Taine, L., Battin, J.: Confirmation of assignment of a locus for Rubinstein–Taybi syndrome gene to 16p13.3. Am. J. Med. Genet., 1992, 44, s. 126–128.
21. Roelfsema, J. H., White, S. J., Ariyurek, Y. et al.: Genetic heterogeneity in Rubinstein –Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am. J. Hum. Genet., 2005, 76, s. 572–580.
22. Oike, Y., Hata, A., Mamiya, T. et al.: Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum. Mol. Genet., 1999, 8, s. 387–396.
23. Bentivegna, A., Milani, D., Gervasini, C. et al.: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med. Genet., 2006, 7, s. 77.
24. Alarcon, J. M., Malleret, G., Touzani, S. et al.: Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron., 2004, 42, s. 947–959.
25. Cotsirilos, P., Taylor, J. C., Matalon, R.: Dominant inheritance of a syndrome similar to Rubinstein–Taybi. Am. J. Med. Genet., 1987, 26, s. 85–93.
26. Bonioli, E., Bellini, C.: Inheritance of Rubinstein-Taybi syndrome. (Letter) Am. J. Med. Genet., 1989, 32, s. 559.
27. Bartsch, O., Locher, K., Meinecke, P. et al.: Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J. Med. Genet., 2002, 39, s. 496–501.
28. Bartsch, O., Wagner, A., Hinkel, G. K. et al.: FISH studies in 45 patients with Rubinstein–Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Europ. J. Hum. Genet., 1999, 7, s. 748–756.
29. Bartsch, O., Rasi, S., Delicado, A. et al.: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum. Genet., 2006, 120, s. 179–186.
30. Hellings, J. A., Hossain, S., Martin, J. K., Baratang, R. R.: Psychopathology, GABA, and the Rubinstein-Taybi Syndrome: A Review and Case Study. Am. J. Med. Genet., 2002, 114, s. 190–195.
31. Bourtchouladze, R., Lidge, R., Catapano, R. et al.: A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. PNAS, 2003, 100, s. 10518–10522.
Štítky
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistČlánok vyšiel v časopise
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