title: Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
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%).
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics "F, Fede", Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138, Napoli, Italy. pierluigimarzuillo@libero.it
authors: Pierluigi
authors: P
authors: Marzuillo
authors: Anna
authors: A
authors: Grandone
authors: Ruggero
authors: R
authors: Coppola
authors: Domenico
authors: D
authors: Cozzolino
authors: Adalgisa
authors: A
authors: Festa
authors: Federica
authors: F
authors: Messa
authors: Caterina
authors: C
authors: Luongo
authors: Emanuele Miraglia
authors: EM
authors: Del Giudice
authors: Laura
authors: L
authors: Perrone
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000235:genetics*; D050882:CREB-Binding Protein / Q000235:genetics*; D005260:Female; D013006:Growth Hormone; D006801:Humans; D009154:Mutation; D010902:Pituitary Gland / Q000002:abnormalities*; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D025962:Septo-Optic Dysplasia / Q000235:genetics
chemical_list: D013006:Growth Hormone; D050882:CREB-Binding Protein