Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation.
10.3760/cma.j.issn.1003-9406.2019.10.002
- Author:
Fei XIE
1
;
Xiaosheng ZHENG
;
Zhidong CEN
;
Wei LUO
Author Information
1. Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310000, China. luoweirock@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Consanguinity;
Homozygote;
Humans;
Mutation, Missense;
Parkinson Disease;
genetics;
Pedigree;
Protein Deglycase DJ-1;
genetics
- 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.
