Kim Se Hee, Lim Byung Chan, Chae Jong Hee, Kim Ki Joong, Hwang Yong Seung
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Korean J Pediatr. 2010 Jun;53(6):718-21. doi: 10.3345/kjp.2010.53.6.718. Epub 2010 Jun 23.
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.
鲁宾斯坦-泰比综合征（RTS）是一种先天性疾病，其特征为典型的面部特征、宽阔的拇指和脚趾以及智力迟钝。此外，RTS患者中还报告有肿瘤、瘢痕疙瘩和包括先天性心脏缺陷在内的各种先天性异常。在约50%的患者中发现了CREB结合蛋白（CREBBP）的突变，据认为这些突变与细胞生长和增殖有关。在此，我们描述了一名患有阿诺德-奇亚里畸形的典型RTS患者。通过突变分析鉴定出CREBBP基因中的一个突变，即c.4944_4945insC。
