Rubinstein-Taybi syndrome (CREBBP, EP300)

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 121-

  Van Belzen, Martine ^a   Bartsch, Oliver ^b   Lacombe, Didier ^c   Peters, Dorien J M ^a   Hennekam, Raoul C M ^d  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN;

CANCER EPIDEMIOLOGY; CHROMOSOME ANALYSIS; CLINICAL ASSESSMENT; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC SCREENING; HALLUX; HUMAN; KARYOTYPING; LIFESTYLE; MISSENSE MUTATION; MORBIDITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NONSENSE MUTATION; NOTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK; RUBINSTEIN SYNDROME;

EID: 78650074319     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.124     Document Type: Note

References (13)

1. Hennekam RCM: The Rubinstein -Taybi syndrome; in Cassidy SB, Allanson JA (eds): Management of Genetic Syndromes, 3rd edn. Hoboken, New Jersey: Wiley, 2010, pp 705-716.
2. Petrij F, Giles RH, Dauwerse HG et al: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348-351.
3. Roelfsema JH, White SJ, 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: 572-580.
4. Coupry I, Roudaut C, Stef M et al: Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet 2002; 39: 415-421.
5. 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: 485-493.
6. Bentivegna A, Milani D, Gervasini C et al: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet 2006; 7: 77.
7. Bartsch O, Labonté J, Albrecht B et al: Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet 2010; 152A: 181-184.
8. Gervasini C, Castronovo P, Bentivegna A et al: High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics 2007; 90: 567-573.
9. Chiang PW, Lee NC, Chien N et al: Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet 2009; 149A: 1463-1467.
10. Petrij F, Dauwerse HG, Blough RI et al: Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncation mutations. J Med Genet 2000; 37: 168-176.
11. 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: 179-186.
12. Stef M, Simon D, Mardirossian B et al: Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet 2007; 15: 843-847.
13. Hennekam RCM, Stevens CA, Van de Kamp JJ: Etiology and recurrence risk in Rubinstein -Taybi syndrome. Am J Med Genet Suppl 1990; 6: 56-64.