Mutational Analysis Of TSC1and TSC2in Chinese Patients With Tuberous Sclerosis Complex:A Study On123Cases

Objective:To study the mutations of Chinese population with tuberous sclerosis complex and analyze the relationship between genotypes and phenotypes.Metheds:We analyzed the TSC1and TSC2mutations of123Chinese patients with tuberous sclerosis complex collected in Huashan Hospital,Fudan University, using the united methods of direct DNA sequencing and multiplex ligation-depedent probe amplification technique, with120normal people as controls.Results:The results showed that there were38mutations in39patients, including7TSC1mutations(4patiens were sporadic,3patients had family history):2deletion mutations,1missense mutation,1nonsense mutation,1insertion,2splicing mutations, including5mutations of extron and2mutations of intron, one of them were previously reported;31TSC2mutations(26patients were sporadic and5patients had family history):8deletion mutations,12missense mutations,6nonsense mutations,1splicing mutation and4insertions, including30mutations of extron,1mutation of intron,9of them were previously reported, including:1insertion,4nonsense mutations and4missense mutations, other mutations were newly discovered. In summary, this study detected a total of28new mutations.Conclusions:We found38mutations in this study, of which28mutations were newly discovered. We also found that there were2or more mutations in Exon6of TSC1and Exon3、8、4、27、37of TSC2, therefore, we assumed that there may be hot mutations in those areas. In summary, the new mutations enriched the information of the molecular genetics of TSC.