Analysis Of Gene Mutations In Two Chinese Patients With Tuberous Sclerosis Complex

Background Tuberous sclerosis complex(TSC,OMIM 191100) is an autosomal dominant multi-system disorder chhracterized by the development of multiple hamartomas,especially the brain,skin,heart and kidneys.TSC there are two TSC disease genes,TSC1 gene on chromosome 9q34 and TSC2 gene on chromosome 16p13. To date,a total of 162mutations in the TSC1 gene and 569 mutations in the TSC2 gene have been recorded on The Human Gene Mutation Database.Other than TSC2/PKD1 contiguous gene deletions and significant renal cystic disease with progressive renal failure,no genotype/phenotype correlation has been described within each gene.Objective To detect the mutation of TSC gene in one sporadic patient and a two-generation-family with tuberous sclerosis complex(TSC).Methods All the coding exons of TSC1 and TSC2 gene of these two patients and all available unaffected family members and 100 unrelated population-matched volunteers were amplified by polymerase chain reaction.The products were detected by direct sequencing analysis. Results Two TSC2 gene mutations(c.1372 C＞T;c.5238-5255 del 18bp CATCAAGCGGCTCCGCCA) were identified in the two patients,but not found in all the unaffected family members and other 100 unrelated control volunteers.Conclusion These two mutations are the cause of clinical phenotypes of the two patients with TSC.