ArticleAmerican journal of human genetics2001
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 158 citations in OpenAlex.
- Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.Clinical journal of the American Society of Nephrology : CJASN · 2008Trial
- Co-Inheritance of Pathogenic Variants inGenes · 2023Article
- Review
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.American journal of human genetics · 2022Article
- Patients with Protein-TruncatingClinical journal of the American Society of Nephrology : CJASN · 2021Article
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Rare genetic causes of complex kidney and urological diseases.Nature reviews. Nephrology · 2020Review
- Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.Frontiers in genetics · 2020Article
- X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.Frontiers in medicine · 2020Article
- Examining the Role of Polymorphisms in Exon 25 of theReports of biochemistry & molecular biology · 2019Article
- Polycystic kidney disease.Nature reviews. Disease primers · 2018Review
- A case of congenital left ventricular diverticulum in a patient with autosomal dominant polycystic kidney disease: possible mechanistic link between polycystin and ventricular diverticulum.CEN case reports · 2018Article
- Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.Journal of the American Society of Nephrology : JASN · 2018Article
- Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2018Article
- Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.Human mutation · 2018Article
- The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Article
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.BMC nephrology · 2018Article
- Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.Journal of the American Society of Nephrology : JASN · 2018Review
- Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada.Canadian journal of kidney health and disease · 2018Review
- Polycystic Kidney Disease without an Apparent Family History.Journal of the American Society of Nephrology : JASN · 2017Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
In searching for a putative third gene for autosomal dominant polycystic kidney disease (ADPKD), we studied the genetic inheritance of a large family (NFL10) previously excluded from linkage to both the PKD1 locus and the PKD2 locus. We screened 48 members of the NFL10 pedigree, by ultrasonography, and genotyped them, with informative markers, at both the PKD1 locus and the PKD2 locus. Twenty-eight of 48 individuals assessed were affected with ADPKD. Inspection of the haplotypes of these individuals suggested the possibility of bilineal disease from independently segregating PKD1 and PKD2 mutations. Using single-stranded conformational analysis, we screened for and found a PKD2 mutation (i.e., 2152delA; L736X) in 12 affected pedigree members. Additionally, when the disease status of these individuals was coded as "unknown" in linkage analysis, we also found, with markers at the PKD1 locus, significant LOD scores (i.e., >3.0). These findings strongly support the presence of a PKD1 mutation in 15 other affected pedigree members, who lack the PKD2 mutation. Two additional affected individuals had trans-heterozygous mutations involving both genes, and they had renal disease that was more severe than that in affected individuals who had either mutation alone. This is the first documentation of bilineal disease in ADPKD. In humans, trans-heterozygous mutations involving both PKD1 and PKD2 are not necessarily embryonically lethal. However, the disease associated with the presence of both mutations appears to be more severe than the disease associated with either mutation alone. The presence of bilineal disease as a confounder needs to be considered seriously in the search for the elusive PKD3 locus.
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