PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease
Copyright © 2018 Elsevier B.V. All rights reserved..
Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:676 |
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| Enthalten in: |
Neuroscience letters - 676(2018) vom: 29. Mai, Seite 98-102 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Wang, Peng [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 22.02.2019 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.neulet.2018.04.020 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM283043555 |
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| 245 | 1 | 0 | |a PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease |
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| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2018 Elsevier B.V. All rights reserved. | ||
| 520 | |a Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Autosomal recessive early-onset Parkinson’s disease | |
| 650 | 4 | |a Homozygous | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a PINK1 | |
| 650 | 4 | |a Parkinson’s disease | |
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| 700 | 1 | |a Song, Chengyuan |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Yiming |e verfasserin |4 aut | |
| 700 | 1 | |a Deng, Hao |e verfasserin |4 aut | |
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