A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1

Qi He; Jingjing Jiang; Jiao Yang; Junjie Zeng; Huan Zhang; Zhengzhong Zhang

A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1

Am J Transl Res. 2022 Jul 15;14(7):5139-5145. eCollection 2022.

Authors

Qi He¹, Jingjing Jiang¹, Jiao Yang¹, Junjie Zeng², Huan Zhang¹, Zhengzhong Zhang¹

Affiliations

¹ Department of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
² Department of Dermatology, Taikang Sichuan Southwest Hospital Company Limited Chengdu 610000, Sichuan, China.

PMID: 35958499
PMCID: PMC9360891

Abstract

Background: Mutations in the neurofibromin 1 (NF1) gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1).

Objective: To clarify the relationship between NF1 variants and disease phenotype.

Methods: 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.

Results: A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the NF1 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 NF1 may underlie NF1 in this family.

Conclusions: This finding expands the spectrum of pathogenic mutations of the NF1 gene, which could aid genetic counseling and prenatal diagnosis.

Keywords: NF1 gene; Neurofibromatosis type 1; Sanger sequencing; mutation; whole-exome sequencing.