ArticleHuman mutation2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.The Journal of molecular diagnostics : JMD · 2019Article
- Predicting human genes susceptible to genomic instability associated withGenome research · 2018Article
- A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.Molecular genetics and genomics : MGG · 2017Article
- Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.PloS one · 2017Article
- Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.Scientific reports · 2016Article
- Decoding NF1 Intragenic Copy-Number Variations.American journal of human genetics · 2015Article
- Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.European journal of human genetics : EJHG · 2013Article
- Gross chromosomal rearrangement mediated by DNA replication in stressed cells: evidence from Escherichia coli.Annals of the New York Academy of Sciences · 2012Article
- Discovery of variants unmasked by hemizygous deletions.European journal of human genetics : EJHG · 2012Article
- Review
- Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.The Journal of biological chemistry · 2011Article
- Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.European journal of human genetics : EJHG · 2010Article
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Authors and funding
18 authors at 12 institutions in 8 countries.
Funding
Abstract
Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations have been identified. Until now, however, copy number mutations (CNMs) involving the CFTR gene have not been methodically analyzed, resulting almost certainly in the underascertainment of CFTR gene duplications compared with deletions. Here, high-resolution array comparative genomic hybridization (averaging one interrogating probe every 95 bp) was used to analyze the entire length of the CFTR gene (189 kb) in 233 cystic fibrosis chromosomes lacking conventional mutations. We succeeded in identifying five duplication CNMs that would otherwise have been refractory to analysis. Based upon findings from this and other studies, we propose that deletion and duplication CNMs in the human autosomal genome are likely to be generated in the proportion of approximately 2-3:1. We further postulate that intragenic gene duplication CNMs in other disease loci may have been routinely underascertained. Finally, our analysis of +/-20 bp flanking each of the 40 CFTR breakpoints characterized at the DNA sequence level provide support for the emerging concept that non-B DNA conformations in combination with specific sequence motifs predispose to both recurring and nonrecurring genomic rearrangements.
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