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Open Access 01-12-2013 | Case report

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Authors: Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone

Published in: BMC Medical Genetics | Issue 1/2013

Abstract

Background

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%).

Case presentation

We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC).

Conclusion

We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.

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Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963, 105: 588-608.CrossRefPubMed

Hennekam RC, Van Doorne JM: Oral aspects of Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990, 6: 42-47.PubMed

Goodfellow A, Emmerson RW, Calvert HT: Rubinstein-Taybi syndrome and spontaneous keloids. Clin Exp Dermatol. 1980, 5 (3): 369-370. 10.1111/j.1365-2230.1980.tb01718.x.CrossRefPubMed

Hennekam RC, Baselier AC, Beyaert E, Bos A, Blok JB, Jansma HB, Thorbecke-Nilsen VV, Veerman H: Psychological and speech studies in Rubinstein-Taybi syndrome. Am J Ment Retard. 1992, 96: 645-660.PubMed

Robson MJ, Brown LM, Sharrard WJ: Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. J Bone Joint Surg Br. 1980, 62: 297-299.PubMed

Parsley L, Bellus G, Handler M, Tsai AC: Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 2011, 155A: 2766-2770.CrossRefPubMed

Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS: A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation. Korean J Pediatr. 2010, 53: 718-721. 10.3345/kjp.2010.53.6.718. Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS, Epub 2010 Jun 23CrossRefPubMedPubMedCentral

Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O’Neil J, Smith J, Torres-Martinez W: Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?. Am J Med Genet A. 2010, 152A: 479-483. 10.1002/ajmg.a.33303.CrossRefPubMed

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: 636-639. 10.1002/ajmg.1320380430.CrossRefPubMed

10.

Tommerup N, van der Hagen CB, Heiberg A: Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet. 1992, 44: 237-241. 10.1002/ajmg.1320440223.CrossRefPubMed

11.

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: 126-128. 10.1002/ajmg.1320440134.CrossRefPubMed

12.

Hennekam RC, Lommen EJ, Strengers JL, Van Spijker HG, Jansen-Kokx TM: Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. 1989, 148: 439-441. 10.1007/BF00595907.CrossRefPubMed

13.

Marion RW, Garcia DM, Karasik JB: Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. 1993, 46: 284-287. 10.1002/ajmg.1320460309.CrossRefPubMed

14.

Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005, 76: 572-580. 10.1086/429130.CrossRefPubMedPubMedCentral

15.

Hennekam RC: Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006, 14: 981-985. 10.1038/sj.ejhg.5201594.CrossRefPubMed

16.

Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH: 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. 2000, 37: 168-176. 10.1136/jmg.37.3.168.CrossRefPubMedPubMedCentral

17.

Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006, 120: 179-186. 10.1007/s00439-006-0215-0.CrossRefPubMed

18.

Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B: Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet. 2007, 15: 843-847. 10.1038/sj.ejhg.5201847.CrossRefPubMed

19.

Tanaka T, Ling BC, Rubinstein JH, Crone KR: Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 2006, 105 (4 Suppl): 261-264.PubMed

20.

Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA: Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003, 119A: 101-110. 10.1002/ajmg.a.10009.CrossRefPubMed

21.

Fernández AA, Guerrero AI, Martínez MI, Vázquez ME, Fernández JB, Chesa I Octavio E, Labrado Jde L, Silva ME, de Araoz MF, García-Ramos R, Ribes MG, Gómez C, Valdivia JI, Valbuena RN, Ramón JR: Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment). BMC Musculoskelet Disord. 2009, 10 (Suppl 1): S1-10.1186/1471-2474-10-S1-S1.CrossRefPubMed

22.

Kishimoto M, Okimura Y, Yagita K, Iguchi G, Fumoto M, Iida K, Kaji H, Okamura H, Chihara K: Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1. J Biol Chem. 2002, 277: 45141-45148. 10.1074/jbc.M202991200.CrossRefPubMed

23.

Mantamadiotis T, Kretz O, Ridder S, Bleckmann SC, Bock D, Gröne HJ, Malaterre J, Dworkin S, Ramsay RG, Schütz G: Hypothalamic 3′, 5′-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. Mol Endocrinol. 2006, 20: 204-211.CrossRefPubMed

24.

Cohen LE, Hashimoto Y, Zanger K, Wondisford F, Radovick S: CREB-independent regulation by CBP is a novel mechanism of human growth hormone gene expression. J Clin Invest. 1999, 104: 1123-1130. 10.1172/JCI7308.CrossRefPubMedPubMedCentral

25.

Aitken LA, Lindan CE, Sidney S, Gupta N, Barkovich AJ, Sorel M, Wu YW: Chiari type I malformation in a pediatric population. Pediatr Neurol. 2009, 40: 449-454. 10.1016/j.pediatrneurol.2009.01.003.CrossRefPubMedPubMedCentral

26.

Massaro M, Pastore S, Ventura A, Barbi E: Pain in cognitively impaired children: a focus for general pediatricians. Eur J Pediatr. 2013, 171: 9-14.CrossRef

The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/14/28/prepub

Title: Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
Authors: Pierluigi Marzuillo
Anna Grandone
Ruggero Coppola
Domenico Cozzolino
Adalgisa Festa
Federica Messa
Caterina Luongo
Emanuele Miraglia del Giudice
Laura Perrone
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2013
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-14-28

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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