Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease

In the past two decades, genetic studies of familial forms of Parkinson’s disease (PD) have shown evidence that PD has a significant genetic component. Indeed, 12 genes are strongly involved in PD causality, three of them having dominant inheritance and 9 causing early-onset autosomal recessive form...

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Veröffentlicht in:Journal of molecular neuroscience 2021, Vol.71 (1), p.142-152
Hauptverfasser: Smaili, Imane, Tesson, Christelle, Regragui, Wafa, Bertrand, Hélène, Rahmani, Mounia, Bouslam, Naima, Benomar, Ali, Brice, Alexis, Lesage, Suzanne, Bouhouche, Ahmed
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Sprache:eng
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Zusammenfassung:In the past two decades, genetic studies of familial forms of Parkinson’s disease (PD) have shown evidence that PD has a significant genetic component. Indeed, 12 genes are strongly involved in PD causality, three of them having dominant inheritance and 9 causing early-onset autosomal recessive forms, including 3 with a typical PD and 6 with an atypical parkinsonism. The aim of this study was to determine the genetic basis of familial PD in Moroccan patients. We selected 18 Moroccan index case with familial forms of PD. Patients were first screened for exon-rearrangements by MLPA kit. They were then analyzed by gene panel next-generation sequencing (NGS). Functional variants with minor allele frequencies
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-020-01635-3