A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1

To the Editor: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by café-au-lait macules (CALMs), neurofibromas, skinfold freckling, and Lisch nodules.[1] Mutations in the neurofibromin 1 gene (NF1) are known to solely result in NF1.[1] Most NF1 patients with mutations in NF1 are sporadic cases; the mean proportion of familial ones is approximately 31.8% with a range from 13.0% to 45.8%.[2‐4] The mutation analysis of NF1 remains difficult due to the large size and complexity of the gene.[5] The direct DNA sequence analysis is a conclusive approach to establishing the molecular diagnosis of NF1. Here, we report a novel frameshift mutation in NF1 gene in a Chinese nuclear family with NF1.