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Korean J Pediatr 2010 June;53(6) :718-721.
doi:https://doi.org/10.3345/kjp.2010.53.6.718
A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
Se Hee Kim (Kim SH), Byung Chan Lim (Lim BC), Jong Hee Chae (Chae JH), Ki Joong Kim (Kim KJ), Yong Seung Hwang (Hwang YS)
Department of Pediatrics, Seoul National University, College of Medicine, Seoul, Korea
Corresponding Author: Jong Hee Chae ,Email: chaeped1@snu.ac.kr
Copyright © 2010 by The Korean Pediatric Society
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.
Keywords: Rubinstein-Taybi syndrome | Mutation | CREB-binding protein | Arnold-Chiari malformation
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