OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1). METHODS: Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents. RESULTS: The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls. CONCLUSION The heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.
China ; Heterozygote ; Humans ; Mutation ; Neurofibromatosis 1/genetics* ; Pedigree