RGD Reference Report - Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). - Rat Genome Database

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Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Authors: Hoefele, J  Mayer, K  Scholz, M  Klein, HG 
Citation: Hoefele J, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. Epub 2010 Nov 29.
RGD ID: 7175279
Pubmed: PMID:21115670   (View Abstract at PubMed)
DOI: DOI:10.1093/ndt/gfq720   (Journal Full-text)

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder with an incidence of 1:1000. Mutations in two genes (PKD1 and PKD2) have been identified as causative. Eighty-five percent of patients with ADPKD carry their mutation in the PKD1 gene. So far, > 500 mutations for PKD1 and > 120 mutations for PKD2, respectively, are known. METHODS: In this study, we performed mutation analysis of PKD1 and PKD2 by exon sequencing in patients during routine molecular diagnostics for ADPKD. RESULTS: In total, 60 mutations were identified in 93 patients representing a mutation detection efficiency of 64.5%. Fifty-two mutations were identified in PKD1 (86.7%) and 8 in PKD2 (13.3%). These include 41 novel mutations detected in PKD1 and 5 novel mutations in PKD2. Accordingly, our data expand the spectrum of known PKD mutations by 8% for PKD1 (41/513) and 4.2% for PKD2 (5/120). These results are in agreement with the detection ranges of 42%, 63% and 64% for definitive disease-causing mutations, and 78%, 86% and 89% for all identified variants reported in several comprehensive mutation screening reports. CONCLUSIONS: The increased number of known mutations will facilitate future studies into genotype-phenotype correlations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant polycystic kidney disease  IAGP 7175279; 7175279DNA:mutations:multipleRGD 
autosomal dominant polycystic kidney disease  ISOPKD1 (Homo sapiens)7175279; 7175279DNA:mutations:multipleRGD 
autosomal dominant polycystic kidney disease  ISOPKD2 (Homo sapiens)7175279; 7175279DNA:mutations:multipleRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Polycystic kidney dysplasia  IAGP 7175279; 7175279DNA:mutations:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pkd1  (polycystin 1, transient receptor potential channel interacting)
Pkd2  (polycystin 2, transient receptor potential cation channel)

Genes (Mus musculus)
Pkd1  (polycystin 1, transient receptor potential channel interacting)
Pkd2  (polycystin 2, transient receptor potential cation channel)

Genes (Homo sapiens)
PKD1  (polycystin 1, transient receptor potential channel interacting)
PKD2  (polycystin 2, transient receptor potential cation channel)


Additional Information