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<p>Abstract</p> <p>Background</p> <p>Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, <it>TSC1 </it>and <it>TSC2</it>, have been attributed to the development of TSC. More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the <it>TSC1 </it>and <it>TSC2 </it>genes have been reported.</p> <p>Methods</p> <p>Mutational analysis of <it>TSC1 </it>and <it>TSC2 </it>genes was performed in 84 Taiwanese TSC families using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing.</p> <p>Results</p> <p>Mutations were identified in a total of 64 (76 %) cases, including 9 <it>TSC1 </it>mutations (7 sporadic and 2 familial cases) and 55 <it>TSC2 </it>mutations (47 sporadic and 8 familial cases). Thirty-one of the 64 mutations found have not been described previously. The phenotype association is consistent with findings from other large studies, showing that disease resulting from mutations to <it>TSC1 </it>is less severe than disease due to <it>TSC2 </it>mutation.</p> <p>Conclusion</p> <p>This study provides a representative picture of the distribution of mutations of the <it>TSC1 </it>and <it>TSC2 </it>genes in clinically ascertained TSC cases in the Taiwanese population. Although nearly half of the mutations identified were novel, the kinds and distribution of mutation were not different in this population compared to that seen in larger European and American studies.</p>