Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population.
Neurobiol Aging
; 84: 235.e9-235.e10, 2019 12.
Article
em En
| MEDLINE
| ID: mdl-31564376
ABSTRACT
Mutations in the podocalyxin-like gene (PODXL) have been recently identified in a consanguineous Indian family with juvenile-onset Parkinson's disease (PD) and 3 unrelated patients with PD. However, the pathogenicity of PODXL mutations in the disease and their role in other PD populations remain unclear. The aim of this study was to investigate the PODXL mutations in a Taiwanese cohort with familial and young-onset PD. Among 531 participants, including 161 probands from PD pedigrees without known PD-causative gene mutations and 370 patients with early-onset PD (age of onset <50 years), all exons and exon-intron boundary junctions of PODXL were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, indicating that PODXL mutations may not play a role in familial or early-onset PD in this Taiwanese population.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Sialoglicoproteínas
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Neurobiol Aging
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Taiwan