Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

2009 ◽  
Vol 30 (7) ◽  
pp. 1054-1061 ◽  
Author(s):  
Karen Nuytemans ◽  
Bram Meeus ◽  
David Crosiers ◽  
Nathalie Brouwers ◽  
Dirk Goossens ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Copy Number ◽  
Copy Number Variations ◽  
Disease Genes ◽  
Relative Contribution ◽  
Belgian Population

High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts

2016 ◽  
Vol 38 (9) ◽  
pp. 775-785 ◽  
Author(s):  
Megha N. Murthy ◽  
Avinash M. Veerappa ◽  
Keshava B. Seshachalam ◽  
Nallur B. Ramachandra
Keyword(s):  
High Resolution ◽  
Parkinson Disease ◽  
Copy Number ◽  
Disease Risk ◽  
Copy Number Variations ◽  
Disease Genes

scholarly journals High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2

2013 ◽  
Vol 34 (8) ◽  
pp. 1071-1074 ◽  
Author(s):  
Liyong Wang ◽  
Karen Nuytemans ◽  
Guney Bademci ◽  
Cherylyn Jauregui ◽  
Eden R. Martin ◽  
...  
Keyword(s):  
High Resolution ◽  
Copy Number Variation ◽  
Parkinson Disease ◽  
Copy Number ◽  
Disease Genes ◽  
Independent Copy ◽  
Number Variation

scholarly journals Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

2011 ◽  
Vol 57 (11) ◽  
pp. 1584-1596 ◽  
Author(s):  
Giulio Piluso ◽  
Manuela Dionisi ◽  
Francesca Del Vecchio Blanco ◽  
Annalaura Torella ◽  
Stefania Aurino ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Copy Number ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Specific Gene ◽  
Disease Genes ◽  
Genomic Hybridization ◽  
Gene Coverage

BACKGROUND Array-based comparative genomic hybridization (aCGH) is a reference high-throughput technology for detecting large pathogenic or polymorphic copy-number variations in the human genome; however, a number of quantitative monogenic mutations, such as smaller heterozygous deletions or duplications, are usually missed in most disease genes when proper multiplex ligation-dependent probe assays are not performed. METHODS We developed the Motor Chip, a customized CGH array with exonic coverage of 245 genes involved in neuromuscular disorders (NMDs), as well as 180 candidate disease genes. We analyzed DNA samples from 26 patients with known deletions or duplications in NMDs, 11 patients with partial molecular diagnoses, and 19 patients with a clinical diagnosis alone. RESULTS The Motor Chip efficiently confirmed and refined the copy-number mutations in all of the characterized patients, even when only a single exon was involved. In noncharacterized or partially characterized patients, we found deletions in the SETX (senataxin), SGCG [sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)], and LAMA2 (laminin, alpha 2) genes, as well as duplications involving LAMA2 and the DYSF [dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)] locus. CONCLUSIONS The combination of exon-specific gene coverage and optimized platform and probe selection makes the Motor Chip a complementary tool for molecular diagnosis and gene investigation in neuromuscular diseases.

scholarly journals Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

2017 ◽  
Vol 20 (2) ◽  
pp. 202-213 ◽  
Author(s):  
Kristof Van Schil ◽  
◽  
Sarah Naessens ◽  
Stijn Van de Sompele ◽  
Marjolein Carron ◽  
...  
Keyword(s):  
Copy Number ◽  
Retinal Disease ◽  
Copy Number Variations ◽  
Disease Genes ◽  
Inherited Retinal Disease ◽  
Genomic Landscape

scholarly journals Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

2018 ◽  
Vol 21 (8) ◽  
pp. 1998-1998
Author(s):  
Kristof Van Schil ◽  
◽  
Sarah Naessens ◽  
Stijn Van de Sompele ◽  
Marjolein Carron ◽  
...  
Keyword(s):  
Copy Number ◽  
Retinal Disease ◽  
Copy Number Variations ◽  
Disease Genes ◽  
Inherited Retinal Disease ◽  
Genomic Landscape

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans

2021 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Nayoung Han ◽  
Jung Mi Oh ◽  
In-Wha Kim
Keyword(s):  
Copy Number ◽  
Genome Wide Association Study ◽  
Copy Number Gain ◽  
Copy Number Variations ◽  
Gene Gain ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Haplotype Blocks ◽  
Genome Wide ◽  
Control And Prevention

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes (N = 72,299) and CNV data (N = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. CYP2D6 rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. DMD ranked the highest in frequency for gene gain (64.52%), while TPMT ranked the highest in frequency for gene loss (51.80%). Copy number gain of CYP4F2 was observed in 22 subjects; 13 of those subjects were carriers with CYP4F2*3 gain. In the case of TPMT, approximately one-half of the participants (N = 308) had loss of the TPMT*1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.

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