Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

doi:10.1038/ki.2008.485

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Article

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Kidney international - 1 Dec 2008

Consugar Mark B, Wong Wai C, Lundquist Patrick A, Rossetti Sandro, Kubly Vickie J, Walker Denise L, Rangel Laureano J, Aspinwall Richard, Niaudet W Patrick, Ozen Seza, David Albert, Velinov Milen, Bergstralh Eric J, Bae Kyongtae T, Chapman Arlene B, Guay-Woodford Lisa M, Grantham Jared J, Torres Vicente E, Sampson Julian R, Dawson Brian D, Harris Peter C

Abstract excerpt

Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2. PKD1 is located in an intrachromosomally duplicated region. A tuberous sclerosis gene, TSC2, lies immediately adjacent to PKD1 and large deletions can result in...

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Identifiers

PMID: 18818683
DOI: 10.1038/ki.2008.485
PMCID: PMC2756756

Genes

PKD1
TSC2
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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