Mutation detection of NF1 gene in a patient with neurofibromatosis type 1 / 中华皮肤科杂志

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.