Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1

VernacularTitle:Ⅰ型神经纤维瘤病一个家系及散发病例1例的 NF1基因变异分析
Author: Xiaoyan ZHAO ¹ ; Kunli ZHOU ; Qiguo ZHANG ; Liangqi CAI
Author Information

1. 厦门大学附属第一医院皮肤科，厦门　361003
Keywords: Genetic Testing; Neurofibromatosis type 1; NF1 gene; Genetic variant
From: Chinese Journal of Medical Genetics 2024;41(3):317-321
CountryChina
Language:Chinese
Abstract: Objective:To explore the genetic basis for a Chinese pedigree and a sporadic case with Neurofibromatosis type 1 (NF1).Methods:Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from peripheral venous blood samples and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:All patients from the pedigree were found to harbor a c. 3251delC variant in exon 25 of the NF1 gene, whilst a c. 4312_4314delGAA variant was found in exon 32 of the NF1 gene in the sporadic case. Conclusion:Variants of the NF1 gene may account for the occurrence of NF1 in this pedigree and sporadic case.