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

BMC Medical Genetics

Laura Perrone¹  Emanuele Miraglia del Giudice¹  Caterina Luongo¹  Federica Messa¹  Adalgisa Festa¹  Domenico Cozzolino²  Ruggero Coppola¹  Anna Grandone¹  Pierluigi Marzuillo¹ 

[1]Department of Pediatrics “F. Fede”, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Napoli, Italy

[2]Department of Internal Medicine, Seconda Università di Napoli, Via Sergio Pansini 5, 80131, Napoli, Italy

关键词: Pituitary hypoplasia;    Syrinx;    Arnold Chiari malformation;    GH deficiency;    Rubinstein-Taybi syndrome;   

Others  :  1177726
DOI  :  10.1186/1471-2350-14-28

 received in 2012-07-20, accepted in 2013-02-20,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Marzuillo et al; licensee BioMed Central Ltd.

【 图 表 】

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