Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson's disease in southern Spain.
Genetics
LRP10
Parkinson’s disease
Journal
Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
15
02
2020
revised:
25
03
2020
accepted:
07
04
2020
pubmed:
16
5
2020
medline:
16
1
2021
entrez:
16
5
2020
Statut:
ppublish
Résumé
Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson's disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer's disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia.
Identifiants
pubmed: 32409252
pii: S0197-4580(20)30126-3
doi: 10.1016/j.neurobiolaging.2020.04.007
pii:
doi:
Substances chimiques
LDL-Receptor Related Proteins
0
LRP10 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
142.e1-142.e3Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.