Mi C R, Wang H, Jiang H, Sun R P, Wang G X
Department of Paediatrics, Qilu Hospital of Shandong University, Jinan, China.
Medical Institute of Paediatrics, Qilu Children's Hospital of Shandong University, Jinan, China.
Genet Mol Res. 2014 Mar 24;13(1):2102-6. doi: 10.4238/2014.March.24.14.
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure. The identification of these two mutations confirmed the diagnosis of TSC and expands the spectrum of TSC2 mutations causing TSC.
结节性硬化症（TSC）是一种常染色体显性神经遗传性疾病，由TSC1或TSC2基因的突变引起，常与多器官系统的错构瘤形成相关。在此，我们报告了TSC2基因中的两个新突变，包括两名以癫痫为首发临床表现的中国汉族TSC患儿，一个位于第29内含子的剪接突变（IVS 29 +1G>C）和一个位于第39外显子的缺失/插入突变（C.5090-5092delCCA- inAG）。这两个突变的鉴定证实了TSC的诊断，并扩大了导致TSC的TSC2基因突变谱。
