Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease

Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygou...

Descripción completa

Detalles Bibliográficos
Autores principales: Fan, Kuan, Hu, Pengzhi, Song, Chengyuan, Deng, Xiong, Wen, Jie, Liu, Yiming, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942881/
https://www.ncbi.nlm.nih.gov/pubmed/31929871
http://dx.doi.org/10.1155/2019/9024894
_version_ 1783484791227678720
author Fan, Kuan
Hu, Pengzhi
Song, Chengyuan
Deng, Xiong
Wen, Jie
Liu, Yiming
Deng, Hao
author_facet Fan, Kuan
Hu, Pengzhi
Song, Chengyuan
Deng, Xiong
Wen, Jie
Liu, Yiming
Deng, Hao
author_sort Fan, Kuan
collection PubMed
description Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.
format Online
Article
Text
id pubmed-6942881
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-69428812020-01-12 Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease Fan, Kuan Hu, Pengzhi Song, Chengyuan Deng, Xiong Wen, Jie Liu, Yiming Deng, Hao Parkinsons Dis Research Article Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene. Hindawi 2019-12-23 /pmc/articles/PMC6942881/ /pubmed/31929871 http://dx.doi.org/10.1155/2019/9024894 Text en Copyright © 2019 Kuan Fan et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Fan, Kuan
Hu, Pengzhi
Song, Chengyuan
Deng, Xiong
Wen, Jie
Liu, Yiming
Deng, Hao
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title_full Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title_fullStr Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title_full_unstemmed Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title_short Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
title_sort novel compound heterozygous prkn variants in a han-chinese family with early-onset parkinson's disease
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942881/
https://www.ncbi.nlm.nih.gov/pubmed/31929871
http://dx.doi.org/10.1155/2019/9024894
work_keys_str_mv AT fankuan novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT hupengzhi novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT songchengyuan novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT dengxiong novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT wenjie novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT liuyiming novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease
AT denghao novelcompoundheterozygousprknvariantsinahanchinesefamilywithearlyonsetparkinsonsdisease

Ejemplares similares