Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/6919
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dc.contributor.authorSampson, J.-
dc.contributor.authorMaheshwar, M.-
dc.contributor.authorAspinwall, R.-
dc.contributor.authorThompson, P.-
dc.contributor.authorCheadle, J.-
dc.contributor.authorRavine, D.-
dc.contributor.authorRoy, S.-
dc.contributor.authorHaan, E.-
dc.contributor.authorBernstein, J.-
dc.contributor.authorHarris, P.-
dc.date.issued1997-
dc.identifier.citationAmerican Journal of Human Genetics, 1997; 61(4):843-851-
dc.identifier.issn0002-9297-
dc.identifier.issn1537-6605-
dc.identifier.urihttp://hdl.handle.net/2440/6919-
dc.description.abstractTuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal cysts are also a frequent manifestation. Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16pi3.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. We studied 27 unrelated patients with tuberous sclerosis and renal cystic disease. Clinical histories and radiographic features were reviewed, and renal function was assessed. We sought mutations at the TSC2 and PKD1 loci, using pulsed field- and conventional-gel electrophoresis and FISH. Twenty-two patients had contiguous deletions of TSC2 and PKD1. In 17 patients with constitutional deletions, cystic disease was severe, with early renal insufficiency. One patient with deletion of TSC2 and of only the 3' UTR of PKD1 had few cysts. Four patients were somatic mosaics; the severity of their cystic disease varied considerably. Mosaicism and mild cystic disease also were demonstrated in parents of 3 of the constitutionally deleted patients. Five patients without contiguous deletions had relatively mild cystic disease, 3 of whom had gross rearrangements of TSC2 and 2 in whom no mutation was identified. Significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the PKD1 gene, and mosaicism for large deletions of TSC2 and PKD1 is a frequent phenomenon.-
dc.description.statementofresponsibilityJulian R. Sampson, Magitha M. Maheshwar, Richard Aspinwall, Peter Thompson, Jeremy P. Cheadle, David Ravine, Sushmita Roy, Eric Haan, Jay Bernstein, and Peter C. Harris-
dc.language.isoen-
dc.publisherCELL PRESS-
dc.rights© 1997 by The American Society of Human Genetics. All rights reserved.-
dc.source.urihttp://dx.doi.org/10.1086/514888-
dc.subjectChromosomes, Human, Pair 16-
dc.subjectHumans-
dc.subjectPolycystic Kidney Diseases-
dc.subjectPolycystic Kidney, Autosomal Dominant-
dc.subjectTuberous Sclerosis-
dc.subjectProteins-
dc.subjectTumor Suppressor Proteins-
dc.subjectRepressor Proteins-
dc.subjectElectrophoresis, Gel, Pulsed-Field-
dc.subjectIn Situ Hybridization, Fluorescence-
dc.subjectChromosome Mapping-
dc.subjectRestriction Mapping-
dc.subjectKaryotyping-
dc.subjectNuclear Family-
dc.subjectGene Rearrangement-
dc.subjectSequence Deletion-
dc.subjectMutation-
dc.subjectMosaicism-
dc.subjectGenes, Tumor Suppressor-
dc.subjectIntrons-
dc.subjectAdolescent-
dc.subjectAdult-
dc.subjectChild-
dc.subjectChild, Preschool-
dc.subjectInfant-
dc.subjectFemale-
dc.subjectMale-
dc.subjectTRPP Cation Channels-
dc.subjectChromosome Inversion-
dc.subjectTuberous Sclerosis Complex 2 Protein-
dc.titleRenal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene-
dc.typeJournal article-
dc.identifier.doi10.1086/514888-
pubs.publication-statusPublished-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
Appears in Collections:Aurora harvest
Paediatrics publications

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