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

BMC Med Genet. 2013 Feb 23:14:28. doi: 10.1186/1471-2350-14-28.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Arnold-Chiari Malformation / genetics*
  • CREB-Binding Protein / genetics*
  • Female
  • Growth Hormone
  • Humans
  • Mutation
  • Pituitary Gland / abnormalities*
  • Rubinstein-Taybi Syndrome / genetics*
  • Septo-Optic Dysplasia / genetics


  • Growth Hormone
  • CREB-Binding Protein

Supplementary concepts

  • Growth Hormone Deficiency With Pituitary Anomalies