ArticleBMC medical genetics2018
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Review
- The genetic spectrum ofNeurosciences (Riyadh, Saudi Arabia) · 2024Article
- Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.Frontiers in genetics · 2024Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- [Progress in diagnosis and treatment of neurofibromatosis in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Review
- Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis.Frontiers in pediatrics · 2022Article
- Review
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2021Article
- A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17.Clinical case reports · 2021Article
- Article
- Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.Genes · 2019Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the gene, and the heterogeneity of mutation types and positions, the detection of variations in NF1 is more difficult than that for an ordinary gene.
methodsIn this study, we collected samples from 23 patients among 46 study participants from 12 unrelated Chinese families with NF1. We used a combination of Sanger sequencing, targeted next-generation sequencing, and multiplex ligation-dependent probe amplification to identify potential mutations of different types.
resultsSeven recurrent mutations and four novel mutations were identified with the aforementioned methods, which were subsequently confirmed by either restriction fragment length polymorphism analysis or Sanger sequencing. Truncating mutations accounted for 73% (8/11) of all mutations identified. We also exhaustively investigated the clinical manifestations of NF1 in patients via acquired pathography, photographs and follow-up. However, no clear genotype-phenotype correlation has been found to date.
conclusionIn conclusion, the novel mutations identified broaden the spectrum of NF1 mutations in Chinese; however, obvious correlations between genotype and phenotype were not observed in this study.
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