ArticlePediatric nephrology (Berlin, Germany)2015
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 21 citations in OpenAlex.
- Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience.Pediatric nephrology (Berlin, Germany) · 2026Article
- Variants and variability - a cohort of Omani children sheds more light on autosomal recessive polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2026Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Review
- Renal Papillary Necrosis (RPN) in an African Population: Disease Patterns, Relevant Pathways, and Management.Biomedicines · 2022Review
- Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.BMC nephrology · 2020Article
- Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.Journal of human genetics · 2016Article
- The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.Journal of the American Society of Nephrology : JASN · 2015Article
- Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundAutosomal recessive polycystic kidney disease (ARPKD; MIM 263200) occurs in 1:20,000 live births. Disease expression is widely variable, with approximately 30 % of affected neonates dying perinatally, while others survive to adulthood. Mutations at the PKHD1 locus are responsible for all typical presentations. The objectives of this study were to define the clinical and genetic characteristics in a cohort of South African patients of Afrikaner origin, a population with a high prevalence of ARPKD.
methodsDNA from the cohort was analyzed for background haplotypes and the p.M627K mutation previously identified in two unrelated Afrikaner patients. The clinical phenotype of the homozygous group was characterized.
resultsAnalysis of 36 Afrikaner families revealed that 27 patients, from 24 (67 %) families, were homozygous for the p.M627K substitution, occurring on a common haplotype. The clinical phenotype of the homozygous individuals was variable.
conclusionsOur data provide strong evidence that the p.M627K substitution is a founder mutation in the Afrikaner population and can be used for streamlined diagnostic testing for at-risk pregnancies. The observed clinical variability suggests that disease expression is modulated by other genetic loci or by gene-environment interactions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.