He Qi, Jiang Jingjing, Yang Jiao, Zeng Junjie, Zhang Huan, Zhang Zhengzhong
Department of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Department of Dermatology, Taikang Sichuan Southwest Hospital Company Limited Chengdu 610000, Sichuan, China.
Am J Transl Res. 2022 Jul 15;14(7):5139-5145. eCollection 2022.
Mutations in the neurofibromin 1 () gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1).
To clarify the relationship between variants and disease phenotype.
Peripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing.
A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the gene in the patient and her daughter, but not in any other (healthy) family member. This c.4508_c.4509delAT (p.Asn1503fsTer26) frameshift variant of may underlie NF1 in this family.
This finding expands the spectrum of pathogenic mutations of the gene, which could aid genetic counseling and prenatal diagnosis.
神经纤维瘤蛋白1（）基因的突变与1型神经纤维瘤病（NF1）的临床表现相关。
阐明变异与疾病表型之间的关系。
采集一名患者及其亲属的外周血样本，提取基因组DNA进行二代测序（NGS）以检测潜在变异；结果通过桑格测序进行验证。
在患者及其女儿的基因第34外显子中检测到一种新的移码变异c.4508_c.4509delAT（p.Asn1503fsTer26），但在任何其他（健康）家庭成员中均未检测到。该基因的这种c.4508_c.4509delAT（p.Asn1503fsTer26）移码变异可能是该家族NF1的病因。
这一发现扩展了基因致病突变的谱，有助于遗传咨询和产前诊断。
