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Analysis of exon dosage using MLPA in South African Parkinson's disease patients

Content Provider	Springer Nature Link
Author	Keyser, Rowena J. Lombard, Debbie Veikondis, Rene Carr, Jonathan Bardien, Soraya
Copyright Year	2009
Abstract	Genomic rearrangements (exon dosage) are common mutations reported in Parkinson's disease (PD) patients. In the present study, we aimed to investigate the prevalence of genomic rearrangements in 88 South African patients with predominantly early-onset PD (age-at-onset ≤50 years). The multiplex ligation-dependent probe amplification method was used to detect exon dosage changes. Two commercially available probe kits, SALSA P051 and P052, were used and together the kits consisted of probes for exons of α-synuclein, parkin, PINK1, DJ-1, LRRK2, UCH-L1, ATP13A2, LPA, TNFRSF9, CAV2, CAV1, GCH1, and two-point mutations. We identified exonic rearrangements in parkin and α-synuclein in 8% of South African patients from different ethnic groups. One patient had a whole-gene triplication of α-synuclein; representing only the fourth family with this mutation reported to date. We found six patients with parkin mutations who had either heterozygous duplications and deletions, or homozygous deletions. A false positive result of an exonic deletion detected in one patient turned out to be homozygous point mutation (Y258X) in PINK1. No exonic rearrangements were found in four of the PD genes; LRRK2, PINK1, DJ-1, and ATP13A2. Mutations in parkin were the predominant genetic cause; however, the frequency of exon dosage in our study group is low compared with previous studies. This indicates the possible involvement of other as yet unidentified PD genes in the development of the disease in the South African population.
Starting Page	305
Ending Page	312
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	11
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2009-12-15
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Parkinson's disease MLPA Exon dosage Parkin α-Synuclein triplication PINK1 Y258X Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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