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Two novel mutations of NF1 gene identified in Chinese patients with severe neurofibromatosis type 1

Sir, Neurofibromatosis type 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disorder, with an incidence of 1 in 2000–5000 individuals.1 Its clinical features include ‘café‐au‐lait’ macules (CALMs), multiple neurofibromas, axillary or inguinal freckling, iris Lisch nodules, skeleton anomalies, learning disabilities, and predisposition to malignancies. The mutations responsible for NF1 have been identified in the NF1 gene on chromosome 17q11.2. This gene spans approximately 350 kb of genomic DNA and encodes a large GTPase‐activating protein called neurofibromin, which is a negative regulator of the Ras‐mediated signal transduction pathway.2 Until now, the germline mutation rate of the NF1 gene is one of the highest known for human inherited diseases.3