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Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Hum Mutat. 2009 Jul; 30(7):1054-61.HM

Abstract

The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still unclear because most studies did not completely analyze each gene. In a large group of Belgian PD patients (N = 310) and control individuals (N = 270), we determined the mutation frequency of both simple mutations and CNVs in these five PD genes, using direct sequencing, multiplex amplicon quantification (MAQ), and real-time PCR assays. Overall, we identified 14 novel heterozygous variants, of which 11 were absent in control individuals. We observed eight PARK2 (multiple) exon multiplications in PD patients and one exon deletion in a control individual. Furthermore, we identified one SNCA whole-gene duplication. The PARK2 and LRRK2 mutation frequencies in Belgian PD patients were similar to those reported in other studies. However, at this stage the true pathogenic nature of some heterozygous mutations in recessive genes remains elusive. Furthermore, though mutations is SNCA, PINK1, and PARK7 are rare, our identification of a SNCA duplication confirmed that screening of these genes remains meaningful.

Authors+Show Affiliations

Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19405094

Citation

Nuytemans, Karen, et al. "Relative Contribution of Simple Mutations Vs. Copy Number Variations in Five Parkinson Disease Genes in the Belgian Population." Human Mutation, vol. 30, no. 7, 2009, pp. 1054-61.
Nuytemans K, Meeus B, Crosiers D, et al. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat. 2009;30(7):1054-61.
Nuytemans, K., Meeus, B., Crosiers, D., Brouwers, N., Goossens, D., Engelborghs, S., Pals, P., Pickut, B., Van den Broeck, M., Corsmit, E., Cras, P., De Deyn, P. P., Del-Favero, J., Van Broeckhoven, C., & Theuns, J. (2009). Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Human Mutation, 30(7), 1054-61. https://doi.org/10.1002/humu.21007
Nuytemans K, et al. Relative Contribution of Simple Mutations Vs. Copy Number Variations in Five Parkinson Disease Genes in the Belgian Population. Hum Mutat. 2009;30(7):1054-61. PubMed PMID: 19405094.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. AU - Nuytemans,Karen, AU - Meeus,Bram, AU - Crosiers,David, AU - Brouwers,Nathalie, AU - Goossens,Dirk, AU - Engelborghs,Sebastiaan, AU - Pals,Philippe, AU - Pickut,Barbara, AU - Van den Broeck,Marleen, AU - Corsmit,Ellen, AU - Cras,Patrick, AU - De Deyn,Peter P, AU - Del-Favero,Jurgen, AU - Van Broeckhoven,Christine, AU - Theuns,Jessie, PY - 2009/5/1/entrez PY - 2009/5/1/pubmed PY - 2009/9/24/medline SP - 1054 EP - 61 JF - Human mutation JO - Hum Mutat VL - 30 IS - 7 N2 - The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still unclear because most studies did not completely analyze each gene. In a large group of Belgian PD patients (N = 310) and control individuals (N = 270), we determined the mutation frequency of both simple mutations and CNVs in these five PD genes, using direct sequencing, multiplex amplicon quantification (MAQ), and real-time PCR assays. Overall, we identified 14 novel heterozygous variants, of which 11 were absent in control individuals. We observed eight PARK2 (multiple) exon multiplications in PD patients and one exon deletion in a control individual. Furthermore, we identified one SNCA whole-gene duplication. The PARK2 and LRRK2 mutation frequencies in Belgian PD patients were similar to those reported in other studies. However, at this stage the true pathogenic nature of some heterozygous mutations in recessive genes remains elusive. Furthermore, though mutations is SNCA, PINK1, and PARK7 are rare, our identification of a SNCA duplication confirmed that screening of these genes remains meaningful. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/19405094/Relative_contribution_of_simple_mutations_vs__copy_number_variations_in_five_Parkinson_disease_genes_in_the_Belgian_population_ DB - PRIME DP - Unbound Medicine ER -