帕金
外显子组测序
遗传学
基因
突变
基因组DNA
DNA测序
复合杂合度
生物
疾病
医学
帕金森病
内科学
作者
Li Wang,Guiyu Lou,Shasha Bian,Litao Qin,Ke Yang,Bing Zhang,Shixiu Liao
出处
期刊:PubMed
日期:2019-04-10
卷期号:36 (4): 344-347
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.04.013
摘要
To explore the clinical and genetic features of a patient suspected with Juvenile Parkinson's syndrome (JP).Clinical features of the patient were analyzed. Genomic DNA of the patient and his parents was extracted from peripheral blood samples and sequenced by exome capture sequencing. The nature and impact of detected mutations were predicted and validated.The patient displayed typical features including resting tremor, bradykinesia, rigidity, but with excellent response to low dose levodopa. DNA sequencing showed that she has carried compound heterozygous mutations of the Parkin gene, namely c.1381dupC and c.619-1G>C, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis predicted that both mutations are pathogenic.The patient has JP caused by mutations of the Parkin gene. Exome capture sequencing is an accurate and efficient method for genetic diagnosis of such disease.
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