Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I.
10.3760/cma.j.cn511374-20210220-00144
- VernacularTitle:一个Ⅰ型神经纤维瘤病家系的基因变异分析
- Author:
Xia SHAO
1
,
2
;
Rikao YU
;
Yingguo DING
;
Liming RUAN
Author Information
1. Beilun Branch of the First Affiliated Hospital of Zhejiang University School of Medicine, Ningbo, Zhejiang 315806, China. yurikao0301@
2. com.
- Publication Type:Journal Article
- MeSH:
China;
Heterozygote;
Humans;
Mutation;
Neurofibromatosis 1/genetics*;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(12):1216-1219
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1).
METHODS:Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents.
RESULTS:The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls.
CONCLUSION:The heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.
