Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)

American Journal of Medical Genetics

Volumn 92, Issue 1, 2000, Pages 47-52

  Petrij, Fred ^a,b   Dorsman, Josephine C ^a   Dauwerse, Hans G ^a   Giles, Rachel H ^a   Peeters, Ton ^c   Hennekam, Raoul C M ^d   Breuning, Martijn H ^a   Peters, Dorien J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c Clinical Genetics Center Utrecht   (Netherlands)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Chromosome 16; Fiber FISH; Rubinstein Taybi syndrome; Translocation; Western blot analysis

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 16; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IMMUNOBLOTTING; KARYOTYPE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 2; CREB-BINDING PROTEIN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; NUCLEAR PROTEINS; RUBINSTEIN-TAYBI SYNDROME; TRANS-ACTIVATORS; TRANSLOCATION, GENETIC;

EID: 0034192883     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H     Document Type: Article

References (32)

1. Avantaggiati ML, Ogryzko V, Gardner K, Giordano A, Levine AS, Kelly K. 1997. Recruitment of p300/CBP in p53-dependent signal pathways. Cell 89:1175-1184.
2. Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, Chaganti RSK, Civin CI, Disteche C, Dubé I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE. 1996. The translocation t(8;16)(p11;p13) of acute myeloid leukemia fuses a putative acetyl transferase to the CREB-binding protein. Nat Genet 14:33-41.
3. Breuning MH, Dauwerse JG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman ECM, Hamel BCJ, Himmelbauer H, Frischauf AM, Stallings RL, Beverstock GC, van Ommen GJB, Hennekam RCM. 1993. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 52:249-254.
4. Dai P, Akimaru H, Tanaka Y, Maekawa T, Nakafuku M, Ishii S. 1999. Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3. J Biol Chem 274:8143-8152.
5. Dallas PB, Yaciuk P, Moran E. 1997. Monoclonal antibody NM11 recognizes a C-terminal epitope shared by p300 and CBP. Hybridoma 16: 273-275.
6. Dauwerse JG, Jumelet EA, Wessels JW, Saris JJ, Hagemeijer A, Beverstock GC, van Ommen GJB, Breuning MH. 1992. Extensive crosshomology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations. Blood 79:1299-1304.
7. De Rooij KE, Dorsman JC, Smoor MA, Den Dunnen JT, van Ommen GJB. 1996. Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractiontion. Hum Mol Genet 5:1093-1099.
8. Driesen MS, Dauwerse JG, Wapenaar MC, Meershoek EJ, Mollevanger P, Chen KL, Fischbeck KH, van Ommen GJB. 1991. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library. Genomics 11:1079-1087.
9. Gerritsen ME, Williams AJ, Neish AS, Moore S, Shi Y, Collins T. 1997. CREB-binding protein/p300 are transcriptional coactivators of p65. Proc Natl Acad Sci USA 94:2927-2932.
10. Giles RH, Petrij F, Dauwerse JG, van der Reijden BA, Beverstock GC, Hagemeijer A, Breuning MH. 1995. The translocation t(8;16) in ANLL M4/M5 disrupts the CBP gene on chromosome 16. Blood 86:(10, Suppl. 1):35.
11. Giles RH, Petrij F, Dauwerse HG, den Hollander AI, Lushnikova T, van Ommen GJB, Goodman RH, Deaven LL, Doggett NA, Peters DJM, Breuning MH. 1997a. Construction of a 1.2 Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/ CREBBP) gene on chromosome 16p13.3. Genomics 42:96-114.
12. Giles RH, Dauwerse HG, Higgins C, Petrij F, Wessels JW, Beverstock GC, Döhner H, Jotterand-Bellomo M, Falkenburg JH, Slater RM, van Ommen GJ, Hagemeijer A, van der Reijden BA, Breuning MH. 1997b. Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). Leukemia 11:2087-2096.
13. Giles RH, Peters DJM, Breuning MH. 1998. Conjunction dysfunction: CBP/ p300 in human disease. Trends Genet 14:178-183.
14. Grossman SR, Perez M, Kung AL, Joseph M, Mansur C, Xiao ZX, Kumar S, Howley PM, Livingston DM. 1998. p300/MDM2 complexes participate in MDM2-mediated p53 degradation. Mol Cell 2:405-415.
15. Harlow E, Lane D. 1988. Antibodies: a laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
16. Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH. 1993. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet 52:255-262.
17. Imaizumi K, Kuroki Y. 1991. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) NL (p13.3;p13.3). Am J Med Genet 38: 636-639.
18. Kievits T, Dauwerse JG, Wiegant J, Devilee P, Breuning MH, Cornelisse CJ, van Ommen GJB, Pearson PL. 1990. Rapid sub-chromosomal localization of cosmids by non-radioactive in situ hybridization. Cytogenet Cell Genet 53:134-136.
19. Lill NL, Grossman SR, Ginsberg D, DeCaprio J, Livingston DM. 1997. Binding and modulation of p53 by p300/CBP coactivators. Nature 387: 823-827.
20. Mutoh H, Naya FJ, Tsai MJ, Leiter AB. 1998. The basic helix-loop-helix protein BETA2 interacts with p300 to coordinate differentiation of secretin-expressing enteroendocrine cells. Genes Dev 12:820-830.
21. Nakajima T, Uchida C, Anderson SF, Lee CG, Hurwitz J, Parvin JD, Montminy M. 1997. RNA helicase A mediates association of CBP with RNA polymerase II. Cell 90:1107-1112.
22. Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, Suzuki M, Yasue H, Nabeshima T, Araki K, Yamamura K. 1999. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet 8:387-396.
23. Petrij F. 2000. Molecular analysis of the Rubinstein-Taybi syndrome. PhD thesis. Leiden: Leiden University.
24. Petrij F, Giles RH, Dauwerse JG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, Tommerup N, van Ommen GJB, Goodman RH, Peters DJM, Breuning MH. 1995. Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
25. Petrij F, Giles RH, Dorsman JC, Dauwerse JG, van Ommen GJB, Peters DJM, Breuning MH. 1996. Haploinsufficiency of CBP leads to the Rubinstein-Taybi syndrome. Am J Hum Genet 59:(Suppl.):A142.
26. Petrij F, Dauwerse JG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM, Breuning MH. 2000a. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37:168-176.
27. Petrij F, Giles RH, Breuning MH, Hennekam RCM. 2000b. Rubinstein-Taybi syndrome. In: Scriver C, et al., editors. The metabolic and molecular basis of human disease, 8th ed. New York: Wiley-Liss (in press).
28. Rowley JD, Reshmi S, Sobulo O, Musvee T, Anastasi J, Raimondi S, Schneider NR, Barredo JC, Cantu ES, Schlegelberger B, Behm F, Doggett NA, Borrow J, Zeleznik-Le N. 1997. All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood 90:535-541.
29. Rubinstein JH, Taybi H. 1963. Broad thumbs and toes and facial abnormalities. Am J Dis Child 105:588-608.
30. Sobulo OM, Borrow J, Tomek R, Reshmi S, Harden A, Schlegelberger B, Housman D, Doggett NA, Rowley JD, Zeleznik-Le NJ. 1997. MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). Proc Natl Acad Sci USA 94:8732-8737.
31. Tanaka Y, Naruse I, Maekawa T, Masuya H, Shiroishi T, Ishii S. 1997. Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. Proc Natl Acad Sci USA 94:10215-10220.
32. Yang C, Shapiro LH, Rivera M, Kumar A, Brindle PK. 1998. A role for CREB binding protein and p300 transcriptional coactivators in Ets-1 transactivation functions. Mol Cell Biol 18:2218-2229.