1. A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
- Author
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Se Hee Kim, Byung Chan Lim, Yong Seung Hwang, Ki Joong Kim, and Jong Hee Chae
- Subjects
Genetics ,Mutation ,CREB-binding protein ,biology ,Rubinstein–Taybi syndrome ,business.industry ,lcsh:RJ1-570 ,Case Report ,lcsh:Pediatrics ,medicine.disease_cause ,medicine.disease ,Pediatrics ,CREB-Binding Protein Gene Mutation ,behavioral disciplines and activities ,Mutational analysis ,Arnold-Chiari malformation ,Pediatrics, Perinatology and Child Health ,medicine ,biology.protein ,CREBBP gene ,business ,Rubinstein-Taybi syndrome ,Congenital disorder - 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.
- Published
- 2010