*Center for Neuroscience Services and Research, and Human Genome Center, School of Medical Sciences, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.
Jpn J Clin Oncol. 2014 May;44(5):506-11. doi: 10.1093/jjco/hyu024. Epub 2014 Mar 30.
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
结节性硬化症是一种常染色体显性神经皮肤疾病，影响多个器官。结节性硬化症是由 TSC1 或 TSC2 这两个致病基因中的任何一个突变引起的，分别编码错构瘤蛋白和结节蛋白。由于 TSC2 和 PKD1 基因均缺失，导致 TSC2/ PKD1 连续基因缺失综合征非常罕见。由于没有特征性的病变，结节性硬化症不容易诊断，尽管已经有了共识性的诊断标准。突变分析是有用的，起着重要的作用。我们在此报告两名马来裔结节性硬化症患者存在 TSC2 基因的两个新的大片段缺失，分别为 TSC2 基因和 TSC2/ PKD1 连续基因缺失综合征。
