Young J M, Burley M W, Jeremiah S J, Jeganathan D, Ekong R, Osborne J P, Povey S
MRC Human Biochemical Genetics Unit, University College London.
Ann Hum Genet. 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x.
The entire coding region of the TSC1 gene has been screened for mutations in 79 unrelated patients with tuberous sclerosis. Causative mutations have been found in 27 of these patients and five other variations in the gene have been identified. 26 of the mutations are predicted to cause premature truncation of the protein product of the gene and one mutation is in a splice site. The mutation screen has revealed that TSC1 mutations are rarer in sporadic tuberous sclerosis patients than in familial cases. We have also found that the only previously described case of non-penetrance can no longer be described as such, and that a single ungual fibroma is not necessarily diagnostic of tuberous sclerosis, important findings for the genetic counselling of tuberous sclerosis patients.
对79例散发性结节性硬化症患者的TSC1基因整个编码区进行了突变筛查。在其中27例患者中发现了致病突变，并鉴定出该基因的其他5种变异。26种突变预计会导致该基因蛋白质产物的过早截断，1种突变位于剪接位点。突变筛查显示，散发性结节性硬化症患者中TSC1突变比家族性病例中更少见。我们还发现，之前描述的唯一一例非外显病例已不能再如此描述，而且单个甲下纤维瘤不一定能诊断结节性硬化症，这些都是结节性硬化症患者遗传咨询的重要发现。
