Korean J Pediatr.  2010 Jun;53(6):718-721. 10.3345/kjp.2010.53.6.718.

A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation

• Kim SH
• Lim BC
• Chae JH
• Kim KJ
• Hwang YS

• KMID: 2280952
• DOI: http://doi.org/10.3345/kjp.2010.53.6.718

Abstract

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

Keyword

Rubinstein-Taybi syndrome; Mutation; CREB-binding protein; Arnold-Chiari malformation

MeSH Terms

Arnold-Chiari Malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
CREB-Binding Protein
Heart Defects, Congenital
Humans
Intellectual Disability
Keloid
Rubinstein-Taybi Syndrome
Thumb
Toes
CREB-Binding Protein