ArticleBMC medical genomics2018
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Population-based, first-tier genomic newborn screening in the maternity ward.Nature medicine · 2025Article
- Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.Saudi medical journal · 2023Article
- Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.Diagnostics (Basel, Switzerland) · 2022Article
- Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisIranian biomedical journal · 2022Article
- Modulator Therapy in Cystic Fibrosis Patients withJournal of personalized medicine · 2022Article
- High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.BMC genomics · 2022Article
- Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.Journal of translational medicine · 2022Article
- Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.Diagnostics (Basel, Switzerland) · 2021Article
- Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.Disease markers · 2021Article
- Bibliometric analysis of chloride channel research (2004-2019).Channels (Austin, Tex.) · 2020Article
- Lumacaftor/ivacaftor therapy is associated with reduced hepatic steatosis in cystic fibrosis patients.World journal of hepatology · 2019Article
- Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.Drug discovery today · 2019Review
- Transcriptional consequences of impaired immune cell responses induced by cystic fibrosis plasma characterized via dual RNA sequencing.BMC medical genomics · 2019Article
- Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.BMC medical genomics · 2019Article
- Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.Scientific reports · 2019Article
- Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene.PloS one · 2019Article
- Utility of cfDNA Fragmentation Patterns in Designing the Liquid Biopsy Profiling Panels to Improve Their Sensitivity.Frontiers in genetics · 2019Article
- Medical genomics at Belyaev Conference - 2017.BMC medical genomics · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causing mutations have been characterized in detail by CFTR2 database, which complicates its analysis with conventional methods.
methodsWe conducted next-generation sequencing (NGS) in a cohort of 89 adult patients negative for p.Phe508del homozygosity. Complete clinical and demographic information were available for 84 patients.
resultsBy combining MLPA with NGS, we identified disease-causing alleles in all the CF patients. Importantly, in 10% of cases, standard bioinformatics pipelines were inefficient in identifying causative mutations. Class IV-V mutations were observed in 38 (45%) cases, predominantly ones with pancreatic sufficient CF disease; rest of the patients had Class I-III mutations. Diabetes was seen only in patients homozygous for class I-III mutations. We found that 12% of the patients were heterozygous for more than two pathogenic CFTR mutations. Two patients were observed with p.[Arg1070Gln, Ser466*] complex allele which was associated with milder pulmonary obstructions (FVC 107 and 109% versus 67%, CI 95%: 63-72%; FEV 90 and 111% versus 47%, CI 95%: 37-48%). For the first time p.[Phe508del, Leu467Phe] complex allele was reported, observed in four patients (5%).
conclusionNGS can be a more information-gaining technology compared to standard methods. Combined with its equivalent diagnostic performance, it can therefore be implemented in the clinical practice, although careful validation is still required.
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