Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance.It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.

• I型神经纤维瘤是一种常见的高外显率的常染色体显性遗传病，编码神经纤维蛋白的抑癌基因NF1的突变能导致I型神经纤维瘤。