ArticleGenome research2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
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- Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.Pediatric nephrology (Berlin, Germany) · 2024Article
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- Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.Molecular genetics and metabolism reports · 2022Article
- Two Different Copy Number Variations of the SOX5 and SOX8 Genes in Yak and Their Association with Growth Traits.Animals : an open access journal from MDPI · 2022Article
- Considerations for whole exome sequencing unique to prenatal care.Human genetics · 2020Review
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome medicine · 2019Article
- Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.European journal of human genetics : EJHG · 2019Article
- Genetic Effects on Dispersion in Urinary Albumin and Creatinine in Three House Mouse (G3 (Bethesda, Md.) · 2019Article
- Predicting human genes susceptible to genomic instability associated withGenome research · 2018Article
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- WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.American journal of human genetics · 2018Article
- The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.European journal of human genetics : EJHG · 2018Article
- Clinical interpretation of copy number variants in the human genome.Journal of applied genetics · 2017Review
- MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Nucleic acids research · 2017Article
- Identification of novel candidate disease genes from de novo exonic copy number variants.Genome medicine · 2017Article
- Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.Nature communications · 2017Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic setting to identify deletions encompassing or disrupting recessive disease genes. We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes. Deletion frequency of these genes ranged from one occurrence to 1.5%. When compared with recessive disease genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier deletion were longer and located farther from known dominant disease genes, suggesting that the formation and/or prevalence of carrier CNVs may be affected by both local and adjacent genomic features and by selection. Some subjects had multiple carrier CNVs (307 subjects) and/or carrier deletions encompassing more than one recessive disease gene (206 deletions). Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting from the combination of two or more recessive conditions, or may potentially cause clinical phenotypes due to a multiply heterozygous state. In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease. We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles.
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