Screening for VPS35 mutations in Parkinson's disease |
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Authors: | Sheerin Una-Marie Charlesworth Gavin Bras Jose Guerreiro Rita Bhatia Kailash Foltynie Thomas Limousin Patricia Silveira-Moriyama Laura Lees Andrew Wood Nicholas |
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Institution: | Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK. |
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Abstract: | Recently 2 groups have independently identified a mutation in the gene 'vacuolar protein sorting 35 homolog' (VPS35 c.1858G>A; p.Asp620Asn) as a possible cause of autosomal dominant Parkinson's disease (PD). In order to assess the frequency of the reported mutation and to search for other possible disease-causing variants in this gene, we sequenced all 17 exons of VPS35 in 96 familial PD cases, and exon 15 (in which the reported mutation is found) in an additional 64 familial PD cases, 175 young-onset PD cases, and 262 sporadic, neuropathologically confirmed PD cases. We identified 1 individual with the p.Asp620Asn mutation and an autosomal dominant family history of PD. Subsequent follow-up of the family confirmed an affected sibling and cousin who also carried the same mutation. No other potentially disease-causing mutations were identified. We conclude that the VPS35 c.1858G>A mutation is an uncommon cause of familial Parkinson's disease in our population. |
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Keywords: | Parkinson's disease Genetics VPS35 Population screening |
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