伴有先天性膈疝的Rubinstein-Taybi综合征一例报告
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1.南京医科大学附属儿童医院 消化科;2.南京医科大学附属儿童医院 儿科重点实验室

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南京医科大学科技发展基金-面上项目(2011NJMU136)


Gene analysis and literature review of Rubinstein-Taybi syndrome with congenital diaphragmatic henia
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Science and Technology Development Fund project of Nanjing Medical University(2011NJMU136)

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    摘要:

    目的:分析首例伴有先天性膈疝的Rubinstein-Taybi综合征患儿基因突变类型及临床表现,并通过文献复习归纳总结该病的临床特征。方法:收集2015年于我院就诊的1例疑似Rubinstein-Taybi综合征患儿临床资料,并取患儿及父、母抗凝外周血,常规提取DNA,采用第二代高通量测序技术进行CREBBP和EP300基因测序分析,再采用针对CREBBP基因第27号突变外显子的引物对其父母进行PCR基因扩增,经Sanger测序对突变进行验证测序。结果:患儿存在宽扁的拇指和第一脚趾,并有多毛、特殊面容,以及精神运动发育迟滞。基因测序发现位于CREBBP基因上的复杂移码突变:c.4499-4493缺失TGCAGTC插入AAGCA,该突变导致蛋白翻译提前终止,未见公共突变数据库和文献报道,结合患儿临床表现,最终诊断为典型Rubinstein-Taybi综合征。该患儿还合并有先天性隔疝,亦为该病的首次发现。结论:Rubinstein-Taybi综合征极为罕见,临床表现复杂多样,本研究新报道1例合并先天性膈疝的Rubinstein-Taybi综合征,丰富了该病的临床表型谱和基因突变谱,同时对于产前遗传咨询及临床早期识别、诊治有重要意义。

    Abstract:

    Objective: To analyze the genetic mutation types and clinical manifestations of the first child with Rubinstein-Taybi syndrome accompanied by congenital diaphragmatic hernia, and try to summarize the clinical characteristics of the disease.Methods:To collect clinical datas of one case with suspected Rubinstein-Taybi syndrome who visited our hospital in 2015, and anticoagulated peripheral blood from the child and his parents were used to routinely extract DNA.Second-generation high-throughput sequencing technology was used to perform CREBBP and EP300 gene sequencing analysis. The primer of mutation exon 27 of the gene was used to amplify the PCR gene of the parents, and the mutation was verified by Sanger sequencing.Result:The child had broad,flat thumb and toe, low hairline, hairness,special facial features and psychomotor retardation.Gene sequencing found a complex frameshift mutation in the CREBBP gene: c.4499-4493 deletion of TGCAGTC and insertion of AAGCA. According to the conservation of amino acids, public database information and clinical manifestations, the final diagnosis was a typical Rubinstein-Taybi syndrome. At present, there were no clinically relevant reports of this mutation site at home and abroad. In addition, the Children also had congenital septal hernia, which was the first discovery of the disease. Conclusion:Rubinstein-Taybi syndrome was extremely rare and clinical manifestations were complex and diverse.Further research and analysis were needed to understand the correlation between different genotypes and phenotypes.It was of great significance for prenatal genetic counseling and early clinical identification, diagnosis and treatment.

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  • 收稿日期:2020-03-09
  • 最后修改日期:2021-07-17
  • 录用日期:2021-09-01
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