ArticleMolecular genetics & genomic medicine2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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63 citing papers in PubMed, 74 citations in OpenAlex.
- Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.Journal of medical genetics · 2026Article
- Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.BMC medical genomics · 2026Article
- Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B.NPJ precision oncology · 2026Article
- FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay.Annals of human genetics · 2026Article
- A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing.Journal, genetic engineering & biotechnology · 2026Article
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.Frontiers in genetics · 2026Article
- Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.Annals of clinical and translational neurology · 2025Article
- Functional Characterization ofInternational journal of molecular sciences · 2025Article
- Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.NPJ genomic medicine · 2025Article
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
- A Compound Heterozygous Pathogenic Variant in ZP2 Gene Causes Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Prenatal diagnosis and molecular characterization ofFrontiers in genetics · 2025Article
- In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome.BMC genomic data · 2024Article
- Case report: Successful PGT-M based on the identification of a spliceogenic variant in theFrontiers in genetics · 2024Article
- A novel variant c.7104 + 6T > A ofFrontiers in pediatrics · 2024Article
- Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities.Frontiers in genetics · 2024Article
- Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.Cancer reports (Hoboken, N.J.) · 2024Article
- Benchmarking splice variant prediction algorithms using massively parallel splicing assays.Genome biology · 2023Article
- Driver and targetable alterations in Chinese patients with small bowel carcinoma.Journal of cancer research and clinical oncology · 2023Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
A subset of DNA variants causes genetic disease through aberrant splicing. Experimental splicing assays, either RT-PCR analyses of patient RNA or functional splicing reporter minigene assays, are required to evaluate the molecular nature of the splice defect. Here, we present minigene assays performed for 17 variants in the consensus splice site regions, 14 exonic variants outside these regions, and two deep intronic variants, all in the DNA mismatch-repair (MMR) genes MLH1, MSH2, MSH6, and PMS2, associated with Lynch syndrome. We also included two deep intronic variants in APC and PKD2. For one variant (MLH1 c.122A>G), our minigene assay and patient RNA analysis could not confirm the previously reported aberrant splicing. The aim of our study was to further investigate the concordance between minigene splicing assays and patient RNA analyses. For 30 variants results from patient RNA analyses were available, either performed by our laboratory or presented in literature. Some variants were deliberately included in this study because they resulted in multiple aberrant transcripts in patient RNA analysis, or caused a splice effect other than the prevalent exon skip. While both methods were completely concordant in the assessment of splice effects, four variants exhibited major differences in aberrant splice patterns. Based on the present and earlier studies, together showing an almost 100% concordance of minigene assays with patient RNA analyses, we discuss the weight given to minigene splicing assays in the current criteria proposed by InSiGHT for clinical classification of MMR variants.
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