Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1.
10.3760/cma.j.issn.1003-9406.2020.08.016
- VernacularTitle:一例Ⅰ型神经纤维瘤病散发病例的
NF1基因变异分析
- Author:
Xiaoyan ZHAO
1
;
Liangqi CAI
;
Linglin ZHANG
;
Peiru WANG
;
Guolong ZHANG
Author Information
1. Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China. zglamu@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(8):871-874
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1).
METHODS:Peripheral blood samples were collected from the patient, his unaffected parents and 100 healthy controls. The NF1 gene was detected by PCR and direct sequencing.
RESULTS:The patient was found to carry a novel nonsense variant c.4339C>T (p.Q1447X) in exon 33 of the NF1 gene. The same variant was not found in his unaffected parents and the 100 healthy controls.
CONCLUSION:The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.
