Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as 2 causal Parkinson disease (PD) genes. We used whole exome sequencing for rapid, parallel analysis of variations in these 2 genes. We performed whole exome sequencing...

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Veröffentlicht in:	Neurology 2013-03, Vol.80 (11), p.982-989
Hauptverfasser:	NUYTEMANS, Karen, BADEMCI, Guney, SCOTT, William K, VANCE, Jeffery M, INCHAUSTI, Vanessa, DRESSEN, Amy, KINNAMON, Daniel D, MEHTA, Arpit, LIYONG WANG, ZÜCHNER, Stephan, BEECHAM, Gary W, MARTIN, Eden R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Eukaryotic Initiation Factor-4G - genetics Exome - genetics Female Genetic Variation - genetics Humans Male Medical sciences Middle Aged Neurology Parkinson Disease - diagnosis Parkinson Disease - genetics Sequence Analysis, DNA - methods Vesicular Transport Proteins - genetics
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Zusammenfassung:	Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as 2 causal Parkinson disease (PD) genes. We used whole exome sequencing for rapid, parallel analysis of variations in these 2 genes. We performed whole exome sequencing in 213 patients with PD and 272 control individuals. Those rare variants (RVs) with
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.0b013e31828727d4