ArticleThe Journal of molecular diagnostics : JMD2010
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Whole exon screening of SLC2A4 gene and the association of rs5435 with type 2 diabetes in a Bangladeshi case-control study.Journal, genetic engineering & biotechnology · 2025Article
- Gigaxonin Suppresses Epithelial-to-Mesenchymal Transition of Human Cancer Through Downregulation of Snail.Cancer research communications · 2024Article
- In silico methods for predicting functional synonymous variants.Genome biology · 2023Review
- Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families.BMC medical genomics · 2021Article
- Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.Frontiers in genetics · 2021Article
- 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
- Widespread position-specific conservation of synonymous rare codons within coding sequences.PLoS computational biology · 2017Article
- A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.Human genetics · 2016Review
- Computational approaches to study the effects of small genomic variations.Journal of molecular modeling · 2015Review
- RNA-Binding Proteins: Splicing Factors and Disease.Biomolecules · 2015Review
- Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Molecular vision · 2015Article
- Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- The cystic fibrosis gene: a molecular genetic perspective.Cold Spring Harbor perspectives in medicine · 2013Review
- Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2012Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even synonymous mutations can induce aberrant skipping of the mutant exon, producing nonfunctional proteins. In this paper, we describe the effect on the splicing efficiency of the synonymous variant 2811 G>T [Gly893Gly] detected in a patient of Italian descent affected by a mild form of cystic fibrosis, until now mentioned as sequence variation with unknown functional consequences. The study, performed through DNA as well as RNA analyses, shows that this mutation creates a new 5' splice site within exon 15, resulting in a transcript lacking 76 amino acid residues. Although this aberrant splicing causes a shorter exon 15, the downstream exonic sequence from exon 16 to the end of the open reading frame is in frame. This study indicates that apparently neutral polymorphism, which may be erroneously classified as nonpathogenic, may indeed led to aberrant splicing thereby resulting in defective protein.
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