Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation
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- 作者：Lude Zhu ; Lei Shi ; Bo Wang ; Mingye Bi ; Jie Pu ; Linglin Zhang ; Yunfeng Zhang ; Xiuli Wang and Guolong Zhang
- 刊名：The Journal of Dermatology
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：43
- 期：11
- 页码：1332-1335
- 全文大小：411K
- ISSN：1346-8138
文摘
Neurofibromatosis type 1 (NF1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three-generation family containing two members with NF1. Two novel mutations, c.853_854insTC and c.1975_1976delinsTA, were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the NF1 transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854insTC mutation. Case reports of patients with two NF1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF1 mutations and the ongoing recognition of different mutations may give insight into the mysterious NF1 pathogenesis.