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%).

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.

• Authors: Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia Del Giudice, Laura Perrone
• Journal: BMC medical genetics (BMC Med Genet) Vol. 14 Pg. 28 (Feb 23 2013) ISSN: 1471-2350 [Electronic] England
• PMID: 23432975 (Publication Type: Case Reports, Journal Article)

Chemical References

• Growth Hormone
• CREB-Binding Protein

Topics

• 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)