ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Asian journal of andrology · 2025Pooled it
- Splicing mutations in the CFTR gene as therapeutic targets.Gene therapy · 2022Review
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusiveBMJ open respiratory research · 2020Article
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes · 2020Review
- Gene Therapy for Cystic Fibrosis: Progress and Challenges of Genome Editing.International journal of molecular sciences · 2020Review
- Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.The Journal of molecular diagnostics : JMD · 2019Article
- Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.American journal of human genetics · 2017Article
- Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.Nucleic acids research · 2016Article
- Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.The Journal of molecular diagnostics : JMD · 2016Article
- CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.Frontiers in pharmacology · 2016Review
- Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAlthough 97-99% of CFTR mutations have been identified, great efforts must be made to detect yet-unidentified mutations.
methodsWe developed a small-scale next-generation sequencing approach for reliably and quickly scanning the entire gene, including noncoding regions, to identify new mutations. We applied this approach to 18 samples from patients suffering from cystic fibrosis (CF) in whom only one mutation had hitherto been identified.
resultsUsing an in-house bioinformatics pipeline, we could rapidly identify a second disease-causing CFTR mutation for 16 of 18 samples. Of them, c.1680-883A>G was found in three unrelated CF patients. Analysis of minigenes and patients' transcripts showed that this mutation results in aberrantly spliced transcripts because of the inclusion of a pseudoexon. It is located only three base pairs from the c.1680-886A>G mutation (1811+1.6kbA>G), the fourth most frequent mutation in southwestern Europe. We next tested the effect of antisense oligonucleotides targeting splice sites on these two mutations on pseudoexon skipping. Oligonucleotide transfection resulted in the restoration of the full-length, in-frame CFTR transcript, demonstrating the effect of antisense oligonucleotide-induced pseudoexon skipping in CF.
conclusionOur data confirm the importance of analyzing noncoding regions to find unidentified mutations, which is essential to designing targeted therapeutic approaches.
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