Huang Ying-Hao, Yang Qin-Bo, Deng Yun-Hua, Yu Nian-Wen, Wang Qing, Liu Mu-Gen
Huazhong University of Science and Technology, Wuhan 430074, China.
Yi Chuan. 2008 Mar;30(3):309-12. doi: 10.3724/sp.j.1005.2008.00309.
A Chinese family affected with autosomal dominant disorder-neurofibromatosis type I was 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 type I in the family. To our knowledge, this mutation is firstly reported in Chinese population.
本研究鉴定出一个患有常染色体显性疾病——I型神经纤维瘤病的中国家庭。进行了连锁分析，并对NF1的整个编码区进行了DNA测序以鉴定致病突变。该中国NF1家系的致病基因与NF1位点连锁，并且在NF1基因中鉴定出一个无义突变G1336X。该突变使NF1蛋白在C端截短了1483个氨基酸残基，并且与所有患者共分离，但在该家系的未患病个体中不存在。本研究表明，NF1基因中的G1336X突变导致了该家系的I型神经纤维瘤病。据我们所知，该突变首次在中国人群中报道。
