We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical characteristics and spectrum of <italic>NF1</italic> mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
- Authors
Mao, Bin; Chen, Siyu; Chen, Xin; Yu, Xiumei; Zhai, Xiaojia; Yang, Tao; Li, Lulu; Wang, Zheng; Zhao, Xiuli; Zhang, Xue
- Abstract
Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene <italic>NF1</italic>. 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 <italic>NF1</italic> mutations in Chinese; however, obvious correlations between genotype and phenotype were not observed in this study.
- Subjects
NEUROFIBROMATOSIS 1; GENETIC mutation; GENETIC polymorphisms; PHENOTYPES; NUCLEOTIDE sequence; GENETICS
- Publication
BMC Medical Genetics, 2018, Vol 19, Issue 1, pN.PAG
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-018-0615-8