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Christos Proukakis

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

About Christos Proukakis

Christos Proukakis is a clinical academic neurologist, holding a senior lectureship at UCL Institute of Neurology and is an honorary consultant neurologist at the Royal Free NHS Trust. His work focuses on Parkinson’s disease, investigating the role of somatic mutations and the utility of new sequencing technologies.

Recent publications

Nacheva, E. et al. DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. PLoS ONE 12, (2017)

Kara, E. et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139: 1904-18, (2016)

Kiely, AP. et al. Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Mol Neurodegener,10:41, (2015)

Porcari, R. et al. The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein. Journal of Biological Chemistry 290, 2395–2404 (2015)

Beavan, M. et al. Evolution of prodromal clinical markers of parkinson disease in a GBA mutation-positive cohort. JAMA Neurology 72, 201–208 (2015).


Mutations in GBA cause Gaucher disease when biallelic, and are strong risk factors for Parkinson’s disease when heterozygous. GBA analysis is complicated by the presence of a nearby pseudogene. Here we present a method for sequencing GBA, using an amplicon including all coding regions and introns, on the Oxford Nanopore MinION, enabling a fast and comprehensive assessment. For illustration we successfully sequenced DNA samples from 17 individuals, including patients with Parkinson’s and Gaucher disease, in a study combining earlier and current nanopore chemistry. We initially compared different aligners (Graphmap and NGMLR), and used Nanopolish and Sniffles to call variants, and NanoOK for quality metrics. Many samples had previously known mutations, including the common p.N409S (N370S) and p.L483P (L444P). We detected these, mostly in a blinded fashion, and other causative mutations in Gaucher patients. In a sample with the complex RecNciI allele, we detected an additional coding SNP, and a 55-base pair deletion in data aligned by NGMLR. We haplotyped all samples using Whatshap and confirmed compound heterozygosity where relevant. False positives were fewer with NGMLR, and easily identified and filtered. We demonstrate the potential of the MinION to analyse this difficult gene, with the added advantage of phasing and intronic analysis.

Christos Proukakis

Christos Proukakis

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