ArticleHuman genetics1994
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 59 citations in OpenAlex.
- A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.International journal of molecular sciences · 2026Article
- c.753_754delAG, a novelWorld journal of clinical cases · 2019Article
- Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population.World journal of gastroenterology · 2008Article
- Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.The Journal of molecular diagnostics : JMD · 2007Article
- Interpreting a genetic case-control finding: What can be said, what cannot be said and implications in Indian populations.Indian journal of human genetics · 2007Article
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
- The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.Human genetics · 2005Article
- CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.Journal of medical genetics · 1997Article
- Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.Human genetics · 1994Article
- Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.American journal of human genetics · 1994Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The alternatively spliced exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for the initial part of the amino-terminal nucleotide-binding fold of CFTR. A unique feature of the acceptor splice site preceding this exon is a variable length polymorphism within the polypyrimidine tract influencing the extent of exon 9 skipping in CFTR mRNA. We investigated this repeat for its relationship to CFTR mutations and intragenic markers on 200 chromosomes from German patients with cystic fibrosis (CF). Four frequent length variations were strongly associated with the four predominant haplotypes previously defined by intragenic marker dimorphisms. One of these alleles displayed absolute linkage disequilibrium to the major CF mutation delta F508. Other frequent CFTR mutations were linked to one particular splice site haplotype indicating that differential exon 9 skipping contributes little to the clinical heterogeneity among CF patients with an identical mutation. We also identified a novel missense mutation (V456F) and a novel nonsense mutation (Q414X) within the coding region of exon 9. The missense mutation V456F adjacent to Walker motif A was present in a pancreas-sufficient CF patient. In contrast, the pancreas-insufficient Q414X/delta F508 compound heterozygote suffered from a severe form of the disease, indicating that alternative splicing of exon 9 does not overcome the deleterious effect of a stop codon with this exon.
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