| BRIEF REPORT |
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| Year : 2020 | Volume
: 38
| Issue : 4 | Page : 217-220 |
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Clinical manifestations and neurofibromatosis type 1 gene mutations of 25 patients with neurofibromatosis type 1 from 10 Chinese pedigrees
Hui Chen, Xuefei Lin, Shi Lian, Wei Zhu
Department of Dermatology, Xuanwu Hospital, Capital Medical University, Changchun, Xicheng, Beijing, China
Correspondence Address:
Prof. Wei Zhu
Department of Dermatology, Xuanwu Hospital, Capital Medical University, No.45, Changchun St, Xicheng District, Beijing 100053
China
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ds.ds_49_19
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This study enrolled 25 patients with neurofibromatosis type 1 (NF1) from 10 Chinese pedigrees. Sanger sequencing analysis and multiplex ligation-dependent probe amplification analysis were used to detect mutations and large fragment losses of the NF1 gene. This study identified 10 NF1 mutations, which comprised six novel and four recurrent mutations. Majority of the mutations can lead to termination codon production, which results in the synthesis of the truncated gene product neurofibromin.
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