Jeong Seon-Yong, Park Sang-Jin, Kim Hyon J
Department of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.
J Korean Med Sci. 2006 Feb;21(1):107-12. doi: 10.3346/jkms.2006.21.1.107.
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD). In order to assess the NF1 mutational spectrum in Korean NF1 patients, we screened 23 unrelated Korean NF1 patients for mutations in the coding region and splice sites of the NF1 gene. We have identified 21 distinct NF1 mutations in 22 patients. The mutations included 10 single base substitutions (3 missense and 7 nonsense), 10 splice site mutations, and 1 single base deletion. Eight mutations have been previously identified and thirteen mutations were novel. The mutations are evenly distributed across exon 3 through intron 47 of the NF1 gene and no mutational hot spots were found. This analysis revealed a wide spectrum of NF1 mutations in Korean patients. A genotype- phenotype correlation analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of the disease.
1型神经纤维瘤病（NF1）是人类最常见的常染色体显性疾病之一。NF1由NF1基因突变引起，该基因由57个外显子组成，编码一种GTP酶激活蛋白（GAP）——神经纤维瘤蛋白。迄今为止，人类基因突变数据库（HGMD）中已鉴定并登记了640多种不同的NF1突变。为了评估韩国NF1患者的NF1突变谱，我们对23名无亲缘关系的韩国NF1患者的NF1基因编码区和剪接位点进行了突变筛查。我们在22名患者中鉴定出21种不同的NF1突变。这些突变包括10个单碱基替换（3个错义突变和7个无义突变）、10个剪接位点突变和1个单碱基缺失。8种突变先前已被鉴定，13种突变是新发现的。这些突变均匀分布在NF1基因的第3外显子至第47内含子之间，未发现突变热点。该分析揭示了韩国患者中广泛的NF1突变谱。基因型-表型相关性分析表明，特定的NF1突变与该疾病的临床特征之间没有明确的关系。
