ArticleHuman genome variation2016
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 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
- Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.Orphanet journal of rare diseases · 2018Pooled it
- Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.International journal of molecular sciences · 2026Review
- Pediatric lung transplantation in China, 2019-2023.World journal of pediatrics : WJP · 2025Article
- Progression and mortality of patients with cystic fibrosis in China.Orphanet journal of rare diseases · 2025Article
- Article
- Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.Journal of personalized medicine · 2024Article
- [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.Genome medicine · 2024Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.Journal of medical genetics · 2022Article
- [Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.Orphanet journal of rare diseases · 2022Article
- Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.Journal of assisted reproduction and genetics · 2022Article
- Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis.Frontiers of medicine · 2022Article
- Genetics of the congenital absence of the vas deferens.Human genetics · 2021Review
- Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.Orphanet journal of rare diseases · 2020Article
- Novel SPEG variant cause centronuclear myopathy in China.Journal of clinical laboratory analysis · 2020Article
- c.753_754delAG, a novelWorld journal of clinical cases · 2019Article
- Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.Frontiers in pediatrics · 2019Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in CF transmembrane conductance regulator gene (CFTR). We and others previously identified CFTR mutations in 20 Chinese patients with CF. In this study, eight Chinese patients with a clinical diagnosis of suspected CF were newly collected and screened for CFTR mutations using a combination of conventional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. The CFTR mutations observed in Chinese CF patients, both reported previously and identified in the present study, were also summarized. In the newly collected patients, we identified 10 different CFTR mutations, including p.F508del, the most common CF-causing mutation in Caucasians, and three novel mutations (p.V1212Afs*15; p.L666* and p.A969A). Most notably, the previously reported p.G970D mutation was found in six patients, making it the most frequent CFTR mutation identified in Chinese CF patients thus far. In conclusion, we detected p.F508del for the first time, identified additional novel CFTR mutations and recorded the most frequent CF-causing mutation in Chinese CF patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.