基因检测确诊表现为多发性咖啡斑的1型神经纤维瘤病2例  

Two Sporadic Cases of Neurofibromatosis Type 1 Presenting with Multiple Café-au-lait Spots Diagnosed by Genetic Testing

作　　者：乌云[1] 姚战非[1] 萨茹拉[2] 乌日根白乙拉 

机构地区：[1]内蒙古民族大学附属医院皮肤科,内蒙古通辽028000 [2]内蒙古民族大学蒙医药学院,内蒙古通辽028000

出　　处：《中国皮肤性病学杂志》2016年第4期331-333,共3页The Chinese Journal of Dermatovenereology

摘　　要：目的对2例表现为多发性牛奶咖啡斑的散发患儿进行神经纤维瘤病致病基因检测,早期确定其诊断。方法提取患儿及其父母外周血DNA,采用PCR扩增先证者NF1基因所有外显子及其侧翼序列并测序,并以200例无关正常人作为对照。结果 2例散发患儿除多发性咖啡斑以外均无神经纤维瘤病的其他表现。我们在患者1和患者2基因组DNA中发现NF1基因分别发生c.4600C>T杂合无义突变(p.R1534X)以及c.7348C>T杂合无义突变(p.R2450X)。这两个突变位点既往均未见报道。2例患儿的父母及200例健康正常人均未检测到相应突变位点。结论 2例多发性咖啡斑患儿经基因诊断均确诊为1型神经纤维瘤病,NF1基因的p.R1534X及p.R2450X突变分别为其致病突变。基因诊断是早期确诊神经纤维瘤病的有效方法。Objective To determine the diagnosis and underlying genetic defect in two sporadic cases with multiple caf6-au-lait spots. Methods Genomic DNA was extracted from peripheral blood leukocytes. All the coding exons and the flanking sequences of NF1 were amplified by PCR using genomic DNA of the patients as template. Direct Sanger sequencing was followed to identify the pathogenic mutations. Two hundred normal individuals were also sequenced to exclude single nucleotide polymorphism. Results Two previously unreported heterozygous mutations （c. 4600C 〉 T and c. 7348C 〉 T） in the NF1 gene were identified in these two patients, respectively, which led to premature termination （p. R1534X and p. R2450X） of neurofibromin 1. These mutations were not detected in their parents or 200 normal individuals. Conclusion We confirmed the diagnosis of neurofibromatosis type 1 in two patients using the genetic testing, which is a powerful tool for the early diagnosis of this disorder.

关 键 词：1型神经纤维瘤病 NF1基因 基因突变 牛奶咖啡斑 

分 类 号：R739.5[医药卫生—肿瘤]