Objective: To analyze the clinical phenotype of a 4-years-old girl with Rubinstein-Taybi syndrome (RSTS) and identify the genetic characters. Methods: The clinical analysis was performed for a patient with RSTS in the First Huizhou Women and Children's Hospital. The whole exome sequencing was applied to examine the DNA sample of the girl with RSTS after carefully physical examination. Likely pathogenic variants were filtered and selected. Polymerase chain reaction followed by Sanger sequencing was used to verify the candidate variants in parents. Results: A deletion mutation (c.5790delC) was found in the CREB-binding protein gene,CREBBP,which is responsible for the 50% to 70% of the RSTS patients. This mutation would cause a frameshift coding product and a premature stop codon. The site did not mutate in her parents,it was de novo mutations. Conclusions: Whole exome sequencing combined with Sanger sequencing found that a c.5790delC site of the CREBBP gene is a mutation site caused Rubinstein-Taybi syndrome.%目的 分析1例Rubinstein-Taybi综合征的临床及遗传学特点. 方法 对惠州第一妇幼保健院疑似Rubinstein-Taybi综合征病例进行临床分析,同时提取先证者DNA进行全外显子组测序,筛选致病突变位点,用Sanger测序对突变位点进行验证. 结果 在患儿的16号染色体CREBBP基因上存在1个杂合突变位点c.5790delC,这个位点的缺失造成了蛋白质翻译的提前终止.该位点在其父母中均未发生突变,为de novo突变. 结论 全外显子组测序结合Sanger测序发现CREBBP基因的c.5790delC位点为引起该Rubinstein-Taybi综合征的突变位点.
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