Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

  • Kim, Se-Hee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Lim, Byung-Chan (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chae, Jong-Hee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Ki-Joong (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Hwang, Yong-Seung (Department of Pediatrics, Seoul National University College of Medicine)
  • Received : 2009.09.15
  • Accepted : 2009.10.27
  • Published : 2010.06.15
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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

References

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