Analysis of a patient with early-onset Parkinson’s disease and PARK7 gene variation
10.3760/cma.j.issn.1003-9406.2019.10.002
- VernacularTitle: PARK7基因突变所致早发性帕金森病遗传学分析
- Author:
Fei XIE
1
;
Xiaosheng ZHENG
2
;
Zhidong CEN
3
;
Wei LUO
3
Author Information
1. Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310000, China
2. Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang 310012, China
3. Department of Neurology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China
- Publication Type:Journal Article
- Keywords:
Early-onset Parkinson’s disease;
PARK7 gene;
Homozygosity mapping;
cDNA sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(10):957-960
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.
Methods:Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.
Results:A homozygous missense variation (c.56C>G, p. Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c. 56C>G variation to be pathogenic.
Conclusion:Homozygous c. 56C>G variation of the PARK7 gene was the disease-causing variation in this family.
