2005
DOI: 10.1038/sj.ejhg.5201402
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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed with or suspected of having TSC using a combination of denaturing gradient gel electrophoresis, single-strand conformational polymorphism, direct sequencing, fluorescent in situ hybridisation and Southern blotting. We identified pa… Show more

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Cited by 430 publications
(435 citation statements)
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“…19,39,40 However, the nearly identical IQ/DQs in men and women in our large TSC1 and TSC2 cohorts are more consistent with previous data on the prevalence of autism, ADHD and other neuropsychiatric disorders in the TSC population, 41,42 suggesting that genetic effects override gender effects.…”
Section: Discussionsupporting
confidence: 90%
See 1 more Smart Citation
“…19,39,40 However, the nearly identical IQ/DQs in men and women in our large TSC1 and TSC2 cohorts are more consistent with previous data on the prevalence of autism, ADHD and other neuropsychiatric disorders in the TSC population, 41,42 suggesting that genetic effects override gender effects.…”
Section: Discussionsupporting
confidence: 90%
“…Thus far, no associations have been found between specific TSC mutation types and cognitive outcomes, 10,19 although there are reports on associations with epilepsy and psychiatric features. 10, [19][20][21][22] As most of these studies have limited power or do not address all mutation types of interest, more extensive investigations are warranted to determine potential correlations between genotype and neurocognitive phenotype in TSC. Furthermore, as mTOR-inhibitors are now under investigation to prevent or reverse neurocognitive morbidity in TSC, more specific information on genotype-phenotype associations will assist clinicians and caregivers in these important treatment decisions.…”
Section: Introductionmentioning
confidence: 99%
“…The prevalence of TSC is estimated at 1 in 6,000 individuals, and up to 70% of cases are due to de novo mutation. 1,2 Inactivating mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin and tuberin, respectively, cause TSC. 3,4 These proteins form a heterodimer involved in negative regulation of the mammalian target of rapamycin complex 1 (mTORC1) kinase.…”
Section: Original Research Article © American College Of Medical Genementioning
confidence: 99%
“…In fact, over 300 different mutations have been described for TSC1, and even over a 1000 for TSC2, probably contributing to the clinical variability observed among TSC patients. Although a clear genotype-phenotype correlation has not been identified for TSC, TSC2 mutations are associated with a more severe disease phenotype compared with TSC1 mutations (Sancak et al, 2005).…”
Section: Nf1mentioning
confidence: 99%