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目的研究结节性硬化症1个散发病例TSC1和TSC2基因突变情况。方法采用直接测序法对1个散发病例患者及其家庭成员进行TSC1和TSC2基因突变检测,并进行DNA测序分析。结果测序结果显示该散发病例的TSC1基因第11外显子第1119位与1120位碱基之间插入了一个碱基A,为c.1119-1120ins A(p.S374KfsX2)移码突变。结论TSC1基因第11外显子存在c.1119-1120ins A(p.S374KfsX2)移码突变可能是导致散发病例结节性硬化症患者发病的原因。
Objective To study the mutations of TSC1 and TSC2 in 1 case of tuberous sclerosis. Methods Direct sequencing was used to detect the mutations of TSC1 and TSC2 genes in a sporadic patient and their family members, and DNA sequencing was performed. Results Sequencing results showed that a base A was inserted between the 1119th and 1120th bases of exon 11 of TSC1 gene in the sporadic cases, which was a frameshift mutation of c.1119-1120ins A (p.S374KfsX2). Conclusions The frameshift mutation of c.1119-1120ins A (p.S374KfsX2) in exon 11 of TSC1 gene may be responsible for the pathogenesis of tuberous sclerosis in sporadic cases.