A novel mutation (c.2690delT) of TSC2 gene in a Chinese family with tuberous sclerosis complex

• 作 者: Hong Guo Yun Bai
• 机 构: Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University
• 出 处: 第十二次全国医学遗传学学术会议
• 发表日期: 2013年4期
• 关键词: Tuberous sclerosis complex TSC 1 TSC2 mutation family

　　Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes.In this study, sequencing was used to screen TSC1 and TSC2 mutations in a Chinese family with tuberous sclerosis complex visited our hospital.One hundred unrelated healthy individuals were screened for novel mutation.The clinical features of the proband included epilepsy in an early stage and facial steatadenoma.CT scans showed several subependymal nodules along the walls of the lateral ventricles and renal cysts.The TSC1 and TSC2 genes were screened by PCR and direct sequencing of the entire coding region and exon-intron boundaries.A novel deletion mutation (c.2690delT) in the TSC2 gene exon 24 was identified, which was not present in the healthy family members or 100 unrelated normal controls.This is the first report of this c.2690delT mutation of the TSC2 gene in TSC family, which expands the spectrum of TSC2 mutations and confirms relationship between mutations in the TSC2 gene and clinical findings of TSC.