title: [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].
abstract: OBJECTIVE
  To investigate the clinical and genetic features of 2 patients with Rubinstein-Taybi syndrome.
  
  
  METHODS
  Using next generation sequencing (NGS) the CREBBP and EP300 genes of 2 children who were diagnosed as Rubinstein-Taybi syndrome at Peking Union Medical College Hospital. The mutations identified by NGS were verified by PCR were analyzed.
  
  
  RESULTS
  The 2 patients at the age of 5 months and 4.5 years manifested short stature (the height were 60 cm and 99 cm respectively), low hairline, thick and dense hair and eyebrows, long lash, epicanthus of both eyes, protruded supercilliary arch, broad and flat thumbs and halluces, and particular facial abnormalities. Patient 2 had language retardation besides. One missense mutation of c.3535A>G, p.Ser1179Gly was found in CREBBP gene in patient 1 and one microdeletion mutation of c.4995_4999delCGCCT, p. Ala1666Pro fs66x was found inpatient 2. Both mutations were reported for the first time.
  
  
  CONCLUSIONS
  Rubinstein-Taybi syndrome is characterized by mental and growth retardation, wide and flat thumbs and first toes, and dysmorphic facial features. CREBBP is one of the causative genes. Mutation detection on CREBBP gene can confirm the diagnosis of Rubinstein-Taybi syndrome.
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China.
authors.forename: Jiangwei
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China.
authors.forename: Changyan
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China. Email: zhengqingqiu33@aliyun.com.
authors.forename: Zhengqing
authors.initials: Z
authors.lastname: Qiu
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics*; D002648:Child; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human