Analysis of NF1 Gene Variations in 10 Suspected Cases of Neurofibromatosis Type I and Families
10.3969/j.issn.1671-7414.2025.03.031
- VernacularTitle:10例疑似Ⅰ型神经纤维瘤病患者及家系NF1基因变异分析
- Author:
Xin LI
1
;
Lin WANG
1
;
Rong QIANG
1
;
Ruixue ZHANG
1
;
Wenjing CHENG
1
;
Yuanyuan CAO
1
Author Information
1. 西北妇女儿童医院医学遗传中心,西安 710061
- Publication Type:Journal Article
- Keywords:
neurofibromatosis type I;
NF1 gene;
whole exome sequencing
- From:
Journal of Modern Laboratory Medicine
2025;40(3):169-172
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study NF1 gene variations in 10 suspected cases of neurofibromatosis type I(NF1)and their parents,thereby providing a basis for genetic counselling,clinical diagnosis,and treatment of this disease.Methods A total of 10 patients diagnosed with,or suspected of having NF1 at Northwest Women's and Children's Hospital from March to December 2023 were selected as study subjects.Whole exome sequencing(WES)was performed to analyse NF1 gene mutations in the patients and their parents,with the findings validated by Sanger sequencing.Results Pathogenic mutations were identified in 6 of the 10 families,with the remaining 4 cases showing no pathogenic gene mutations.In Family 1,a de novo mutation,c.6505A>T,was detected in the NF1 gene.In Family 2,a de novo mutation,c.6705-3C>A,was identified in the NF1 gene.In Family 3,a de novo mutation,c.6853delT,was detected in the NF1 gene.In Family 4,a de novo mutation,c.2446C>T,was found in the NF1 gene.In Family 5,a paternal mutation,c.6067T>A,was identified in the NF1 gene.In Family 6,a paternal mutation,c.2991_2993dup,was detected in the NF1 gene.Conclusion The identification of new mutation sites enriches the mutation spectrum of the NF1 gene.This study provides important guidance for genetic counselling and prenatal diagnosis,offering crucial information for families with reproductive needs.
