鉴定了一个中国家庭中的常染色体显性遗传病-Ⅰ型神经纤维瘤, 通过连锁分析和NF1基因测序, 发现该家系中NF1疾病的致病基因与NF1基因连锁, 并在NF1基因上发现了一个无义突变G1336X, 该突变导致神经纤维蛋白从C末端截断1 483个氨基酸残基。G1336X突变在该家系中与疾病共分离, 但家系中的正常成员未能检出, 表明NF1基因的G1336X的突变是引起该家族患NF1疾病的原因。该突变是第一次在中国NF1疾病人群中报道。

A Chinese family affected with autosomal dominant disorder－neurofibromatosis typeⅠwas identified in this study. Linkage analysis was performed, and DNA sequencing for whole coding region of NF1 was carried out to identify the disease-causing mutation. The disease gene of the Chinese NF1 family was linked to NF1 locus, and a nonsense mutation, G1336X in the NF1 gene was identified. This mutation truncates the NF1 protein by 1 483 amino acid residues at the C-terminus, and is co-segregate with all the patients, but not present in unaffected individuals in the family. The present study demonstrated that G1336X mutation in the NF1 gene cause Neurofibromatosis typeⅠin the family. To our knowledge, this mutation is firstly reported in Chinese population.