Mutation detection of NF1 gene in a patient with neurofibromatosis type 1

Abstract

Objective To detect NF1 gene mutations in a patient with neurofibromatosis type 1 (NF1) . Methods Polymerase chain reaction (PCR) and DNA sequencing were performed to detect mutations of the NF1 gene in a patient with NF1, his parents and 100 unrelated healthy controls. Results A novel frameshift mutation (c.3822delC) was identified in the patient, but not found in his parents or the unrelated healthy controls. Conclusion The novel frameshift mutation (c.3822delC) found in the patient is not a rare single nucleotide polymorphism (SNP) , and may be a causative mutation for NF1 by affecting the function of the NF1 gene. Key words: Neurofibromatosis 1; Genes, neurofibromatosis 1; Mutation