Related Experiment Video
Updated: Jun 5, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim1, Byung Chan Lim, Jong Hee Chae
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
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.
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