五例结节性硬化症患者的TSC基因突变检测  

Analysis of TSC gene mutations in five patients with tuberous sclerosis complex

作　　者：刘林莉[1] 张正中[1] 牟韵竹[1] 熊芬[1] 杨浩[1] 杨萍[1] 刘一平[1] 陈星[1] 眭维耻[1] 

机构地区：[1]川北医学院附属医院皮肤科,四川南充637000

出　　处：《中华医学遗传学杂志》2017年第2期164-168,共5页Chinese Journal of Medical Genetics

基　　金：四川省教育厅自然科学基金（09ZC047）

摘　　要：目的检测结节性硬化症（tuberous sclerosis complex，TSC）2个家系和1个散发病例TSC1和TSC2基因，寻找其致病突变。方法应用直接测序法对2个结节性硬化症家系（4例患者）和1个散发病例及其家庭成员进行TSC1和TSC2基因突变检测。结果家系1患者的TSC2基因第19外显子发现c．1964C〉T（P．S655F）新的错义突变；散发病例TSC2基因第40外显子发现c．5238—5255delCATCAAGCGGCTCCGCCA（P．His1746Glnfsx56）重复缺失突变，并在其后第56位氨基酸处提前出现终止密码子TGA；家系2患者的TSC1和TSC2基因未检测出致病突变。结论TSC2基因c．1964C〉T（P．S655F）错义突变及c．5238—5255delCATCAAGCGGCTCCGCCA（P．His1746GlnfsX56）缺失突变可能分别是结节性硬化症家系1及散发病例的致病原因。Objective To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex （TSC）. Methods For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing. Results For one family, a novel missense mutation c. 1964C〉T （p. S655F） was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c. 5238- 5255delCATCAAGCGGCTCCGCCA （p. His1746GinfsX56） was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family. Conclusion The missense mutation c. 1964 C〉T （P. S655F） and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA （p. His1746GlnfsX56） of the TSC2 gene probably underlie the disease in the first family and the sporadic case.

关 键 词：结节性硬化症 TSC基因 突变 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]