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17.09.2016 | Original Article | Ausgabe 4/2016 Open Access

neurogenetics 4/2016

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease

Zeitschrift:
neurogenetics > Ausgabe 4/2016
Autoren:
Valentina La Cognata, Giovanna Morello, Giulia Gentile, Velia D’Agata, Chiara Criscuolo, Francesca Cavalcanti, Sebastiano Cavallaro
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10048-016-0494-0) contains supplementary material, which is available to authorized users.

Abstract

Parkinson’s disease (PD), the second most common progressive neurodegenerative disorder, was long believed to be a non-genetic sporadic syndrome. Today, only a small percentage of PD cases with genetic inheritance patterns are known, often complicated by reduced penetrance and variable expressivity. The few well-characterized Mendelian genes, together with a number of risk factors, contribute to the major sporadic forms of the disease, thus delineating an intricate genetic profile at the basis of this debilitating and incurable condition. Along with single nucleotide changes, gene-dosage abnormalities and copy number variations (CNVs) have emerged as significant disease-causing mutations in PD. However, due to their size variability and to the quantitative nature of the assay, CNV genotyping is particularly challenging. For this reason, innovative high-throughput platforms and bioinformatics algorithms are increasingly replacing classical CNV detection methods. Here, we report the design strategy, development, validation and implementation of NeuroArray, a customized exon-centric high-resolution array-based comparative genomic hybridization (aCGH) tailored to detect single/multi-exon deletions and duplications in a large panel of PD-related genes. This targeted design allows for a focused evaluation of structural imbalances in clinically relevant PD genes, combining exon-level resolution with genome-wide coverage. The NeuroArray platform may offer new insights in elucidating inherited potential or de novo structural alterations in PD patients and investigating new candidate genes.

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Zusatzmaterial
Supplementary Table 1 (DOCX 13 kb)
10048_2016_494_MOESM2_ESM.docx
Supplementary Table 2 (XLSX 57 kb)
10048_2016_494_MOESM3_ESM.xlsx
ESM 1 (DOCX 15 kb)
10048_2016_494_MOESM1_ESM.docx
Literatur
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Acknowledgement to referee

Acknowledgement to Referees 2015/2016