2014
DOI: 10.1093/jjco/hyu024
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Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

Abstract: Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnos… Show more

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Cited by 13 publications
(7 citation statements)
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“…The TSC2 gene lies adjacent to PKD1, suggesting that PKD1 serves a role in the etiology of renal cystic disease in TSC ( 33 ). Deletion of the TSC2 and PKD1 genes is associated with a severe polycystic phenotype and this occurs in 2% of patients with TSC ( 34 ).…”
Section: Discussionmentioning
confidence: 99%
“…The TSC2 gene lies adjacent to PKD1, suggesting that PKD1 serves a role in the etiology of renal cystic disease in TSC ( 33 ). Deletion of the TSC2 and PKD1 genes is associated with a severe polycystic phenotype and this occurs in 2% of patients with TSC ( 34 ).…”
Section: Discussionmentioning
confidence: 99%
“…One deletion involved exons 26–31, and the other deletion involved exons 32–41 which is contiguous into adjacent PKD1 . 13 …”
Section: Discussionmentioning
confidence: 99%
“…TGF-β1 production might correlate with reduced incidence of acute rejection, since it down-regulates Th1 responses and Th1 cytokine production [21]. Single-nucleotide polymorphisms are associated with the risk of some diseases and drug dose requirement in kidney recipients [23][24][25][26][27]. The current evidence indicates that TGF-β1 involves in the pathogenesis of acute rejection in patients with renal transplantation.…”
Section: Introductionmentioning
confidence: 99%