Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease.

ABSTRACT:

Objects

To capture point mutations and short insertions/deletions in 49 previously reported genes associated with Parkinson's disease (PD) in a Chinese pedigree with early-onset Parkinson's disease (EOPD)-affected individuals.

Methods

Clinical examinations and genomic analysis were performed on 21 subjects belonging to three generations of a Chinese family. Target region capture and high-throughput sequencing were used for screening 49 genes, which were previously reported to be associated with PD. The direct Sanger sequencing method in all subjects further verified the abnormal DNA fragments in the PARK2 gene.

Results

Four family members, including a mother (I-1) and her three children (II-2, II-3, and II-7), were diagnosed with PD by clinical manifestations a

SUBMITTER: Shi Y 

PROVIDER: S-EPMC5853629 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature