ArticlePloS one2010
Hotspots of large rare deletions in the human genome.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
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- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Social behavior in prepubertal neurexin 1α deficient rats: A model of neurodevelopmental disorders.Behavioral neuroscience · 2021Article
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- The Controversial Roles of ADP-Ribosyl Hydrolases MACROD1, MACROD2 and TARG1 in Carcinogenesis.Cancers · 2020Review
- Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.Scientific reports · 2018Article
- Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.Frontiers in genetics · 2018Article
- Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.PLoS genetics · 2015Article
- Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.Molecular genetics & genomic medicine · 2014Article
- Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Journal of applied genetics · 2014Article
- Dissociations between cognitive and motor effects of psychostimulants and atomoxetine in hyperactive DAT-KO mice.Psychopharmacology · 2014Article
- Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.American journal of human genetics · 2013Article
- Single nucleotide polymorphism array analysis of microsatellite-stable, diploid/near-diploid colorectal carcinomas without the CpG island methylator phenotype.Oncology letters · 2013Article
- Lack of association between cancer history and PARKIN genotype: a family based study in PARKIN/Parkinson's families.Genes, chromosomes & cancer · 2012Article
- The genetics of attention deficit/hyperactivity disorder in adults, a review.Molecular psychiatry · 2012Review
- Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.European journal of human genetics : EJHG · 2012Article
- Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.Molecular syndromology · 2012Article
- Rare deletions at the neurexin 3 locus in autism spectrum disorder.American journal of human genetics · 2012Article
- DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder.PloS one · 2012Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe have examined the genomic distribution of large rare autosomal deletions in a sample of 440 parent-parent-child trios from the Quebec founder population (QFP) which was recruited for a study of Attention Deficit Hyperactivity Disorder. METHODOLOGY/PRINCIPAL
findingsDNA isolated from blood was genotyped on Illumina Hap300 arrays. PennCNV combined with visual evaluation of images generated by the Beadstudio program was used to determine deletion boundary definition of sufficient precision to discern independent events, with near-perfect concordance between parent and child in about 98% of the 399 events detected in the offspring; the remaining 7 deletions were considered de novo. We defined several genomic regions of very high deletion frequency ('hotspots'), usually of 0.4-0.6 Mb in length where independent rare deletions were found at frequencies of up to 100 fold higher than the average for the genome as a whole. Five of the 7 de novo deletions were in these hotspots. The same hotspots were also observed in three other studies on members of the QFP, those with schizophrenia, with endometriosis and those from a longevity cohort. CONCLUSIONS/SIGNIFICANCE: Nine of the 13 hotspots carry one gene (7 of which are very long), while the rest contain no known genes. All nine genes have been implicated in disease. The patterns of exon deletions support the proposed roles for some of these genes in human disease, such as NRXN1 and PARKIN, and suggest limited roles or no role at all, for others, including MACROD2 and CTNNA3. Our results also offer an alternative interpretation for the observations of deletions in tumors which have been proposed as reflecting tumor-suppressive activity of genes in these hotspots.
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