Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
| العنوان: | Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1 |
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| المؤلفون: | Xiaojia Zhai, Zheng Wang, Bin Mao, Tao Yang, Xue Zhang, Siyu Chen, Xin Chen, Lulu Li, Xiuli Zhao, Xiumei Yu |
| المصدر: | BMC Medical Genetics BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018) |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Genotype-phenotype distinction, Child, Genetics (clinical), Aged, 80 and over, Genetics, Sanger sequencing, Mutation, Neurofibromin 1, Middle Aged, Phenotype, symbols, Female, Restriction fragment length polymorphism, Research Article, Adult, lcsh:Internal medicine, Heterozygote, Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Genotype, Pseudogene, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Germline mutation, Asian People, medicine, Humans, Neurofibromatosis, lcsh:RC31-1245, Gene, Genetic Association Studies, Aged, Chinese, medicine.disease, eye diseases, lcsh:Genetics, Clinical manifestations, 030104 developmental biology, The NF1 gene, Multiplex Polymerase Chain Reaction, Neurofibromatosis type 1 |
| الوصف: | Background Neurofibromatosis 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. Methods In 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. Results Seven 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. Conclusion In 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. Electronic supplementary material The online version of this article (10.1186/s12881-018-0615-8) contains supplementary material, which is available to authorized users. |
| تدمد: | 1471-2350 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9027063510c85fddbb2c5634f028926Test https://doi.org/10.1186/s12881-018-0615-8Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d9027063510c85fddbb2c5634f028926 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712350 |
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