ArticleGenome research2008
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets.Progress in retinal and eye research · 2022Article
- Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.Frontiers in immunology · 2021Article
- A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.International journal of molecular sciences · 2020Review
- Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome.Genome biology and evolution · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.American journal of human genetics · 2017Article
- Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs.Science advances · 2017Article
- An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.Scientific reports · 2017Article
- Article
- Copy number variations in Saudi family with intellectual disability and epilepsy.BMC genomics · 2016Article
- Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis.Scientific reports · 2016Article
- Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.Molecular cytogenetics · 2016Article
- Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.PloS one · 2016Article
- An alignment-free method to find and visualise rearrangements between pairs of DNA sequences.Scientific reports · 2015Article
- Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Molecular cytogenetics · 2014Article
- The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of contiguous genes at 7q11.23 mediated by nonallelic homologous recombination (NAHR) between large flanking LCRs and facilitated by a structural variant of the region, a approximately 2-Mb paracentric inversion present in 20%-25% of WBS-transmitting progenitors. We now report that eight out of 180 (4.44%) WBS-transmitting progenitors are carriers of a CNV, displaying a chromosome with large deletion of LCRs. The prevalence of this CNV among control individuals and non-transmitting progenitors is much lower (1%, n=600), thus indicating that it is a predisposing factor for the WBS deletion (odds ratio 4.6-fold, P= 0.002). LCR duplications were found in 2.22% of WBS-transmitting progenitors but also in 1.16% of controls, which implies a non-statistically significant increase in WBS-transmitting progenitors. We have characterized the organization and breakpoints of these CNVs, encompassing approximately 100-300 kb of genomic DNA and containing several pseudogenes but no functional genes. Additional structural variants of the region have also been defined, all generated by NAHR between different blocks of segmental duplications. Our data further illustrate the highly dynamic structure of regions rich in segmental duplications, such as the WBS locus, and indicate that large CNVs can act as susceptibility alleles for disease-associated genomic rearrangements in the progeny.
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