Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

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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.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.identifier.citationAmerican Journal of Human Genetics, 1997; 61(4):843-851
dc.identifier.doi10.1086/514888
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/6919
dc.language.isoen
dc.publisherCELL PRESS
dc.rights© 1997 by The American Society of Human Genetics. All rights reserved.
dc.source.urihttps://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
pubs.publication-statusPublished

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