Wang G-X, Wang D-W, Zhao J-S, Wang S-F, Sun R-P
Department of Paediatrics, Qilu Hospital of Shandong University, Jinan, P.R. China.
Genet Mol Res. 2011;10(1):107-13. doi: 10.4238/vol10-1gmr977.
Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. The TSC1 and TSC2 genes were studied by PCR and direct sequencing of the entire coding region and exon-intron boundaries of these genes. A novel deletion mutation (c.1964delA) in the TSC1 gene exon 15 was identified, which was not present in his parents or 100 unrelated normal controls. This is the first report of this c.1964delA mutation of the TSC1 gene, associated with tuberous sclerosis complex, expanding the spectrum of TSC1 mutations that cause this disease.
结节性硬化症是一种由TSC1和TSC2基因突变引起的常染色体显性遗传性疾病。我们研究了一名散发型结节性硬化症的中国患者。该患者的临床特征包括癫痫、背部色素减退斑和血管纤维瘤；头颅CT扫描显示侧脑室侧壁有室管膜下结节。通过PCR以及对这些基因的整个编码区和外显子-内含子边界进行直接测序来研究TSC1和TSC2基因。在TSC1基因第15外显子中鉴定出一种新的缺失突变（c.1964delA），其父母或100名无关正常对照中均未出现。这是首次报道与结节性硬化症相关的TSC1基因c.1964delA突变，拓宽了导致该疾病的TSC1基因突变谱。
