ArticleAmerican journal of human genetics1995
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 120 citations in OpenAlex.
- Clinical Significance of the 5T;12TG Genotype in Pediatric CFSPID: A Retrospective Study.Children (Basel, Switzerland) · 2025Article
- Molecular and functional correction of a deep intronic splicing mutation inMolecular therapy. Methods & clinical development · 2023Article
- Features of CFTR mRNA and implications for therapeutics development.Frontiers in genetics · 2023Review
- 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
- The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.Life (Basel, Switzerland) · 2020Article
- Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.PLoS genetics · 2020Article
- New Directions in Pulmonary Gene Therapy.Human gene therapy · 2020Review
- The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.Journal of clinical medicine · 2019Article
- Minigene assay to Evaluate CRISPR/Cas9-based excision of Intronic mutations that Cause Aberrant Splicing in Human Cells.Bio-protocol · 2019Article
- Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients.Children (Basel, Switzerland) · 2018Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- What can the CF registry tell us about rare CFTR-mutations? A Belgian study.Orphanet journal of rare diseases · 2017Article
- Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.American journal of human genetics · 2017Article
- Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.PloS one · 2017Article
- Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Journal of human genetics · 2016Article
- Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Genetic variation and alternative splicing.Nature biotechnology · 2015Article
- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Nature genetics · 2013Article
- Mutation deep within an intron of MSH2 causes Lynch syndrome.Familial cancer · 2011Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splice site in intron 11. Semiquantitative mRNA analysis showed that 1811+1.6kbA-->G-mRNA was 5-10-fold less abundant than delta F508 mRNA. Mutation 1811+1.6kbA-->G was found in 21 Spanish and 1 German CF chromosomes, making it the fourth-most-frequent mutation (2%) in the Spanish population. Individuals with genotype delta F508/1811+1.6kbA-->G have only 1%-3% of normal CFTR mRNA. This loss of 97% of normal CFTR mRNA must be responsible for the pancreatic insufficiency and for the severe CF phenotype in these patients.
Indexed as
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7534040PMC1801150W2118305926What OpenQuestion holds
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.