【摘要】 目的对1例临床拟诊为Ⅰ型神经纤维瘤病（neurofibromatosis type 1,NF1）患者进行致病基因突变研究。方法提取先证者及其家系成员外周全血基因组DNA,通过目标捕获二代测序技术（targeted next-generation sequencing,TNGS）对先证者Ⅰ型神经纤维瘤蛋白基因（neurofibromin 1,NF1）的全部编码区外显子及其侧翼序列进行高通量测序检测可疑突变,并用Sanger测序法进一步验证;对其家系成员NF1相同突变位点进行Sanger测序检测。结果基因检测发现先证者NF1第45号外显子1个已知致病突变c.6790₆791ins A（p.Tyr2264Ter）,有类似临床表现的父亲和姐姐检出相同突变,表型正常的母亲和妻子未检测到此突变,其4岁儿子也检测出该突变。结论 NF1的c.6790₆791ins A（p.Tyr2264Ter）突变存在与该家系NF1的发病密切相关。更多还原

【Abstract】 Objective To identify the genetic ecology in a patient with neurofibromatosis type 1（NF1）. Methods The genomic DNA was extracted from peripheral blood of the proband and his family members. All coding exons and the flanking sequences of neurofibromin 1（NF1）from the proband were screened by targeted next-generation sequencing（TNGS）,the suspected mutation was validated by Sanger sequencing. Finally,the same mutation site was detected in his family members by Sanger sequencing.Results A known pathogenic mutation c.6790₆791ins A（p.Tyr2264Ter）was identified in the exon 45 of NF1 in the proband,his father and sister had similar clinical manifestations,but his mother and wife were asymptomatic. The same mutation was also detected in his 4- year- old son. Conclusion The mutation ofc.6790₆791ins A（p.Tyr2264Ter）is closely related to the pathogenesis of the NF1 family.更多还原