ArticleInternational journal of molecular medicine2014
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Article in International journal of molecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.Functional & integrative genomics · 2026Article
- A Comprehensive Overview of NF1 Mutations in Iranian Patients.Neuromolecular medicine · 2024Article
- Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.Journal of pediatric genetics · 2023Article
- Deep Intronic LINE-1 Insertions inBiomolecules · 2023Article
- Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.Clinical and experimental nephrology · 2023Article
- Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.European journal of human genetics : EJHG · 2023Article
- NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series.Clinical, cosmetic and investigational dermatology · 2022Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.Frontiers in genetics · 2021Article
- Molecular analysis ofMolecular genetics and metabolism reports · 2020Article
- Article
- Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.Orphanet journal of rare diseases · 2019Article
- CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools.Human mutation · 2019Article
- [Genetic analysis and prenatal diagnosis of a sporadic family with neurofibromatosis type 1].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.Molecular genetics & genomic medicine · 2019Article
- Identification of a NovelBioMed research international · 2019Article
- Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.Hereditary cancer in clinical practice · 2019Article
- Splicing mutations in human genetic disorders: examples, detection, and confirmation.Journal of applied genetics · 2018Review
- Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Journal of molecular neuroscience : MN · 2018Article
- The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities.Neurology · 2018Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. One of the hallmarks of NF1 is the high mutation rate in this gene. In this study, we present 127 different NF1 mutations and 54 novel mutations detected at both the genomic DNA and mRNA level using a retrospective case series review. We found that 25.2% of these different mutations induced aberrant splicing. Of note, 40.6% of these splicing errors were caused by exonic variants. In addition, one mutation produced mosaicism in the post-transcriptional profile. However, studies investigating these splicing aberrations are limited. In order to better understand the pathogenicity of NF1 and to provide a more accurate interpretation in molecular diagnostic testing, combined computational analyses were employed to elucidate the underlying mechanisms of the variants modulating NF1 gene splicing.
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