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

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

Objective: To clarify the relationship between 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 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.

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