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Common features of TSC include intractable epilepsy, mental retardation, and autistic features. TSC is associated with specific brain lesions, including cortical tubers, subependymal nodules and subependymal giant cell astrocytomas. In addition, this disease frequently produces characteristic tumors, termed hamartomas, in the kidneys, heart, skin, retina, and lungs. Disease severity in TSC can be quite variable and is not determined by the primary mutation alone. In fact, there is often considerable variability in phenotype within single families, where all affected individuals carry the same mutation. Factors suspected to influence phenotype in TSC include the specific primary mutation, random occurrence of second-hit somatic mutations, mosaicism, \"modifying genes\", and environmental factors. In addition to these factors, we hypothesize that differences in mRNA expression from the non-mutated TSC allele, or possibly from the mutated allele, play a part in modifying disease severity. Common genetic variants that regulate mRNA expression have previously been shown to play important roles in human phenotypic variability, including disease susceptibility. A prediction based on this idea is that common regulatory variants that influence disease severity in TSC should be detectable in non-affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A PCR\/primer extension assay was used to measure allele specific expression of<jats:italic>TSC1<\/jats:italic>and<jats:italic>TSC2<\/jats:italic>mRNAs in leukocytes isolated from normal volunteers. This assay can be used to measure \"allelic expression imbalance\" (AEI) in individuals by making use of heterozygous \"marker\" single nucleotide polymorphisms (SNPs) located within their mRNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study we show for the first time that<jats:italic>TSC1<\/jats:italic>and<jats:italic>TSC2<\/jats:italic>genes exhibit allele-specific differences in mRNA expression in blood leukocytes isolated from normal individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results support the possibility that allele-specific variation in<jats:italic>TSC<\/jats:italic>mRNA expression contributes to the variable severity of symptoms in TSC patients.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-12-29","type":"journal-article","created":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T17:12:35Z","timestamp":1298653955000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Evidence for population variation in TSC1 and TSC2 gene expression"],"prefix":"10.1186","volume":"12","author":[{"given":"Garilyn M","family":"Jentarra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen G","family":"Rice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Olfers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Saffen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Narayanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,2,23]]},"reference":[{"key":"760_CR1","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","volume":"75","author":"The European Chromosome 16 Tuberous Sclerosis Consortium","year":"1993","unstructured":"The European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. 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