Genetic study of a Parkinson's disease pedigree caused by compound heterozygous mutations in PARK2 gene.
10.3760/cma.j.issn.1003-9406.2018.06.009
- Author:
Meihong CHEN
1
;
Zhidong CEN
;
You CHEN
;
Xiaosheng ZHENG
;
Fei XIE
;
Si CHEN
;
Wei LUO
Author Information
1. Department of Neurology, Tiantai People's Hospital, Tiantai, Zhejiang 317200, China. luoweirock@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
China;
DNA Mutational Analysis;
Exons;
Heterozygote;
Humans;
Mutation;
Parkinson Disease;
genetics;
Pedigree;
Ubiquitin-Protein Ligases;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(6):815-818
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree where three siblings were affected with Parkinson's disease.
METHODS:Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed to detect the causative mutation. Sanger sequencing of cDNA was also used for verify the effect of mutation on the transcription of RNA.
RESULTS:Heterozygous deletion of exon 3 of the PARK2 gene was detected by MLPA, while a heterozygous splice site variant c.619-3G>C was detected by NGS. Both mutations were shown to result in aberrant transcripts of the PARK2 gene (loss of exons 3 and 6, respectively) by Sanger sequencing of cDNA. Both mutations have co-segregated with the disease in the pedigree.
CONCLUSION:Compound heterozygous mutations of the PARK2 gene probably underlie the disease in this pedigree. Identification of the splice site variant c.619-3G>C has expanded the mutation spectrum of the PARK2 gene.
