ArticleHuman genetics2003
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- MicroRNA and Alternative mRNA Splicing Events in Cancer Drug Response/Resistance: Potent Therapeutic Targets.Biomedicines · 2021Review
- Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype.Cell death & disease · 2021Article
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Science translational medicine · 2017Article
- Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.International journal of molecular sciences · 2017Review
- Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.PloS one · 2015Article
- Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.International journal of molecular medicine · 2014Article
- Alternative splicing and its impact as a cancer diagnostic marker.Genomics & informatics · 2012Article
- TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by Trübenbach et al.Rheumatology international · 2010Article
- Genomic features defining exonic variants that modulate splicing.Genome biology · 2010Article
- Alternative splicing and disease.Biochimica et biophysica acta · 2009Review
- Alternative splicing and tumor progression.Current genomics · 2008Article
- Functional analysis of splicing mutations in exon 7 of NF1 gene.BMC medical genetics · 2007Article
- Splicing in action: assessing disease causing sequence changes.Journal of medical genetics · 2005Review
- A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women.Thorax · 2005Article
- PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes.Nucleic acids research · 2005Article
- Article
- Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.Nucleic acids research · 2005Article
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-PCR analysis the expected fragment from exon 4b to 8 together with a shortened one with the in-frame skipping of exon 7. Sequencing of the corresponding genomic fragment revealed a G-->A transition and a C-->A transversion at nucleotide positions 57 and 58 of the 174-bp long exon 7, neither of which was present in the proband's parents or 50 healthy controls. No other variation was found in the entire NF1 coding sequence. The use of previously established sequence matrices for the scoring of putative ESE motifs showed that the adjacent silent and missense mutations are located within highly conserved overlapping stretches of seven nucleotides with a close similarity to the ESE-specific consensus sequences recognised by the SC35 and SF2/ASF SR proteins. The combined occurrence of both consecutive alterations decreases the motif score for both SF2/ASF and SC35 below their threshold levels. As the aberrant transcript is consistently expressed, a protein lacking 58 amino acids is predicted. Thus the contiguous internal exon 7 mutations are suggested to cause exon 7 skipping as a result of the mis-splicing caused by abrogation of functional ESEs.
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