Identification and analysis of gene mutations of an neurofibromatosis type 1 patient
10.3760/cma.j.issn.1008-1372.2017.04.003
- VernacularTitle:Ⅰ型神经纤维瘤患者新发生突变的基因诊断
- Author:
Bodi GAO
;
Qian LYU
;
Shuangfei LI
;
Wen LI
;
Juan DU
;
Qianjun ZHANG
- Keywords:
Neurofibromatosis 1/DI/GE;
Mutation
- From:
Journal of Chinese Physician
2017;19(4):491-494
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore mutation diagnosis and discuss the pathogenic and clinical characteristics of neurofibromatosis type 1 (NF1).Methods DNA sequencing combined with denaturing highperformance liquid chromatography (DHPLC) method was used to diagnose patients and parents.Results A new nonsense mutations c.503C ＞ G(p.S168 *) was identified.Conclusions NF1 is a rare autosomal dominant genetic disease.Most of them are caused by new mutations.Genetic diagnosis of sporadic cases is very important for treatment and the future generations.
