Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Pediatr Neurol. 2012 Apr;46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002.
Tuberous sclerosis complex is a genetic disorder caused by mutations in the genes TSC1 or TSC2. Studies of these mutations are very rare in Korean populations. A previous study identified mutations in only 30% of patients by denaturing high performance liquid chromatography with sequencing. Here, we sought to determine the mutational frequency in Koreans. Eleven patients who fulfilled the diagnostic criteria for tuberous sclerosis complex were included. All patients underwent sequencing of both TSC genes, and if no mutations were evident, multiplex ligation-dependent probe amplification was performed. Mutations were detected by sequencing in 82% (9/11) of patients: 36.4% (4/11) in TSC1 and 45.5% (5/11) in TSC2. Two patients with no mutations carried large deletions that included exon 1 of TSC1 in one patient and exons 1-15 of TSC2 in the other patient. Mutations were completely identified in the present study. Therefore, mutation rates in Korean patients may not be lower than those in other ethnic groups. Direct sequencing followed by multiplex ligation-dependent probe amplification analysis may constitute a rational approach to identify disease-causing mutations in Korean patients.
结节性硬化症是一种由 TSC1 或 TSC2 基因突变引起的遗传疾病。在韩国人群中，对这些突变的研究非常罕见。之前的一项研究通过变性高效液相色谱测序仅发现了 30%的患者存在突变。在这里，我们试图确定韩国人群中的突变频率。纳入了 11 名符合结节性硬化症诊断标准的患者。所有患者均接受了 TSC 基因的测序，如果没有明显的突变，则进行多重连接依赖性探针扩增。通过测序在 82%（9/11）的患者中检测到突变：TSC1 中的 36.4%（4/11）和 TSC2 中的 45.5%（5/11）。两名无突变的患者携带大片段缺失，一名患者 TSC1 的外显子 1 缺失，另一名患者 TSC2 的外显子 1-15 缺失。本研究中完全鉴定了突变。因此，韩国患者的突变率可能并不低于其他种族。直接测序后进行多重连接依赖性探针扩增分析可能是鉴定韩国患者致病突变的合理方法。
