Genetic analysis of NUS1 in Chinese patients with Parkinson's disease.

Abstract:

:Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants and 5 nonsynonymous variants. Pathogenicity predictions indicated that 2 novel nonsynonymous variants (c.432 T>G, c.86 G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Chen X,Xiao Y,Zhou M,Lin Y,Guo W,Huang S,Qiu J,Peng G,Mo M,Li Z,Zhu X,Xu P

doi

10.1016/j.neurobiolaging.2019.09.002

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

202.e5-202.e6

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(19)30322-7

journal_volume

86

pub_type

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