The Genomic Landscape of Tuberous Sclerosis Complex (TSC)

In this study, we characterized the genomic landscape of tuberous sclerosis complex (TSC), a rare genetic disease causing multisystem growth of benign tumors and other hamartomatous lesions. We analyzed 127 human tissues, including 111 TSC-associated samples and 16 non-TSC negative controls, using multiple genomic platforms including whole exome sequencing, targeted sequencing of known disease-causative loci (TSC1 and TSC2), mRNA sequencing, high-density SNP arrays, and DNA methylation arrays.]]>
Study Documents MethodsSamples from TSC patients or non-TSC organ donors were acquired from the NIH NeuroBioBank's Brain and Tissue Repository at the University of Maryland, Houston McGovern Medical School at the University of Texas, Cincinnati Children's Hospital Medical Center, New York University School of Medicine, and Helen DeVos Children's Hospital. Samples were reviewed by a certified clinical pathologist to confirm tissue type and assess integrity, whenever possible (samples with inconsistent, unlikely to be consistent, or unclear diagnoses were excluded from the study). Tissues that failed to produce a sufficient amount of high-uality DNA and/or RNA for sequencing or other array-based analyses were excluded. Samples were also excluded if they failed to produce usable data on two of three DNA platforms (WES, SNP array, targeted TSC sequencing), with the exception of one non-tumor tissue sample in which the germline mutation was identified in the completed platform (eliminating the need for the additional platforms to be completed).]]>