1型神经纤维瘤病中国家系中的NF1基因新型剪接突变：病例系列
NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series.
作者信息
Wu Ting, Yang Hao, Xu Liuli, Huang Qing, He Qi, Wu Rong, Mu Yun-Zhu
机构信息
Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, People's Republic of China.
Pediatric department, Women's and Children's hospital of GaoPing District, Nanchong, People's Republic of China.
出版信息
Clin Cosmet Investig Dermatol. 2022 Oct 31;15:2345-2351. doi: 10.2147/CCID.S388045. eCollection 2022.
BACKGROUND
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation.
PURPOSE
To identify pathogenic mutation of the NF1 gene in a pedigree of NF1.
PATIENTS AND METHODS
Collection of clinical data from one NF1 family. Peripheral blood samples were collected from the affected persons and their family members. Potential mutations of NF1 gene were screened by exome and cDNA sequencing.
RESULTS
A splice mutation (c.4836-10T>G) was found in exon 37 of the NF1 gene in this NFI family, and no corresponding mutation was found in healthy members of this pedigree or in the human reference genome (GRCh37/hg19).
CONCLUSION
Mutations of NF1 gene is a major cause of NF1. The novel splice mutation in exon 37 of NF1 gene is the underlying cause of the familial c.4836-10T>G.
背景
1型神经纤维瘤病（NF1）是一种常见的常染色体显性遗传病。NF1是一种多系统疾病，其发病机制涉及17q11.2染色体上NF1基因的突变，导致RAS过度激活，刺激细胞异常增殖。
目的
鉴定一个NF1家系中NF1基因的致病突变。
患者与方法
收集一个NF1家族的临床资料。采集患者及其家庭成员的外周血样本。通过外显子组和cDNA测序筛选NF1基因的潜在突变。
结果
在该NF1家族的NF1基因第37外显子中发现一个剪接突变（c.4836-10T>G），在该家系的健康成员或人类参考基因组（GRCh37/hg19）中未发现相应突变。
结论
NF1基因突变是NF1的主要病因。NF1基因第37外显子中的新型剪接突变是家族性c.4836-10T>G的潜在病因。
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