Cui Jianfei, Yu Xiaoman, Liang Shuli, Zhang Shaohui, Hu Xiaohong
Department of Neurosurgery, First Affiliated Hospital of PLA General Hospital, Beijing, China; First Affiliated Hospital of PLA General Hospital Graduate Training Base, Jinzhou Medical University, Jinzhou, China.
Department of Neurosurgery, First Affiliated Hospital of PLA General Hospital, Beijing, China.
J Clin Neurosci. 2018 Aug;54:39-44. doi: 10.1016/j.jocn.2018.05.007. Epub 2018 May 24.
Tuberous scleroses complex (TSC) is a rare neurocutaneous syndrome and has autosomal dominant inheritance. However, larger family with TSC is very rare. Here, we report the first five generations family with TSC from China, and localize the pathogenic gene. A boy with TSC and epilepsy underwent preoperative evaluation and epileptic surgery. His TSC family history was gotten, and the clinical data of a Chinese family with TSC were collected in 2016. Complete exons sequencing was performed in the proband and his parents, and whole exons sequence of TSC was performed in the other family members. The family showed autosomal dominant inheritance, and it was the largest reported family with TSC. In this pedigree, there were 14 patients in 5 generations, but only 1 case with epilepsy in them. All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs13 mutation. In conclusion, TSC patients with TSC 1 deletion presented mild neurological symptom and rendered larger family.
结节性硬化症复合体（TSC）是一种罕见的神经皮肤综合征，具有常染色体显性遗传。然而，患有TSC的大家庭非常罕见。在此，我们报告来自中国的首个五代TSC家族，并对致病基因进行定位。一名患有TSC和癫痫的男孩接受了术前评估和癫痫手术。获取了他的TSC家族病史，并于2016年收集了一个中国TSC家族的临床数据。对先证者及其父母进行了全外显子测序，并对其他家庭成员进行了TSC全外显子序列分析。该家族呈现常染色体显性遗传，是已报道的最大的TSC家族。在这个谱系中，五代中有14名患者，但其中只有1例患有癫痫。所有接受检测的患者均有TSC 1基因外显子15 c.1846delG p.A616Pfs13突变。总之，患有TSC 1缺失的TSC患者表现出轻度神经症状，且家族规模较大。
