ArticlePediatric nephrology (Berlin, Germany)2019
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Article in Pediatric nephrology (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Pooled it
- Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.BMC nephrology · 2026Article
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
- Cross-Species Insights into Autosomal Dominant Polycystic Kidney Disease: Provide an Alternative View on Research Advancement.International journal of molecular sciences · 2024Review
- Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.NPJ genomic medicine · 2024Article
- Plasma proteome fingerprint in kidney diseases.Frontiers in molecular biosciences · 2024Article
- Review
- Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2022Article
- RecessiveFrontiers in molecular neuroscience · 2022Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
- Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.American journal of medical genetics. Part A · 2021Article
- Biallelic Mutations inMolecular syndromology · 2021Article
- Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.Journal of cellular and molecular medicine · 2021Article
- Article
- Whole exome sequencing of a Saudi family and systems biology analysis identifiesSaudi journal of biological sciences · 2020Article
- The morbid genome of ciliopathies: an update.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern. Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD). Early onset and severe PKD can occur with PKD1 and PKD2 pathogenic variants and such phenotypes may be modified by second alleles inherited in trans. Homozygous or compound heterozygous hypomorphic PKD1 variants may also cause a moderate to severe disease PKD phenotype.
methodsTargeted renal gene panel followed by Sanger sequencing of PKD1 gene were employed to investigate molecular causes in early onset PKD patients.
resultsIn this study, we report four consanguineous Saudi Arabian families with early onset PKD which were associated with biallelic variants in PKD1 gene.
conclusionsOur findings confirm that PKD1 alleles may combine to produce severe paediatric onset PKD mimicking the more severe autosomal recessive ciliopathy syndromes associated with PKD. Screening of parents of such children may also reveal subclinical PKD phenotypes.
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