Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 26-31

  Demeer, Bénédicte ^a   Andrieux, Joris ^b   Receveur, Aline ^c   Morin, Gilles ^a   Petit, Florence ^b   Julia, Sophie ^d   Plessis, Ghislaine ^e   Martin Coignard, Dominique ^c   Delobel, Bruno ^f   Firth, Helen V ^g   Thuresson, Ann C ^h   Lanco dosen, Sandrine ⁱ   Sjörs, Kerstin ^j   Le caignec, Cedric ^k   Devriendt, Koenraad ^l   Mathieu Dramard, Michèle ^a  

^a AMIENS UNIVERSITY HOSPITAL   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c CHRU   (France)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e CAEN UNIVERSITY HOSPITAL   (France)

^f GHICL   (France)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h UPPSALA UNIVERSITY   (Sweden)

ⁱ Centre Hospitalier de Sambre Avesnois   (France)

^j CENTRAL HOSPITAL   (Sweden)

^k NANTES UNIVERSITY HOSPITAL   (France)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

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Author keywords

CREBBP; Genotype phenotype correlation; Microduplication; Rubinstein Taybi syndrome

Indexed keywords

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 16P13.3; CLEFT PALATE; CLINICAL ARTICLE; CREBBP GENE; DEXTROCARDIA; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; FUNNEL CHEST; GENE; GENOTYPE; HUMAN; INGUINAL HERNIA; INTELLECTUAL IMPAIRMENT; MALE; MIDFACE HYPOPLASIA; NEWBORN; PALATE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRESCHOOL CHILD; PTOSIS; SPEECH DISORDER; STRABISMUS; THUMB MALFORMATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; CREB-BINDING PROTEIN; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME; SYNDROME;

EID: 84871697296     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.09.005     Document Type: Article

References (8)

1. Hennekam R.C., Tilanus M., Hamel B.C., Voshart-van Heeren H., Mariman E.C., van Beersum S.E., van den Boogaard M.J., Breuning M.H. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am. J. Hum. Genet. 1993, 52:255-262.
2. B. Thienpont, F. Bena, J. Breckpot, N. Philip, B. Menten, H. Van Esch, E. Scalais, J.M. Salamone, C.T. Fong, J.L. Kussmann, D.K. Grange, J.L. Gorski, F. Zahir, S.L. Yong, M.M. Morris, S. Gimelli, J.P. Fryns, G. Mortier, J.M. Friedman, L. Villard, A. Bottani, J.R. Vermeesch, S.W. Cheung, K. Devriendt, Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome, J. Med. Genet., 47 155-161.
3. Marangi G., Leuzzi V., Orteschi D., Grimaldi M.E., Lecce R., Neri G., Zollino M. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. Am. J. Med. Genet. A 2008, 146A:2313-2317.
4. Dallapiccola B., Bernardini L., Novelli A., Mingarelli R. Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3. Am. J. Med. Genet. A 2009, 149A:2867-2870.
5. J.L. Chen, Y.F. Yang, C. Huang, J. Wang, J.F. Yang, Z.P. Tan, Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies, Am J Med Genet. A, 158A 685-688.
6. Thienpont B., Breckpot J., Holvoet M., Vermeesch J.R., Devriendt K. A microduplication of CBP in a patient with mental retardation and a congenital heart defect. Am. J. Med. Genet. A 2007, 143A:2160-2164.
7. Petrij F., Giles R.H., Dauwerse H.G., Saris J.J., Hennekam R.C., Masuno M., Tommerup N., van Ommen G.J., Goodman R.H., Peters D.J., et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995, 376:348-351.
8. Hennekam R.C. Rubinstein-Taybi syndrome. Eur. J. Hum. Genet. 2006, 14:981-985.