ArticleAmerican journal of human genetics2007
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract.Clinical and experimental nephrology · 2021Observational
- Genetic basis of human congenital anomalies of the kidney and urinary tract.The Journal of clinical investigation · 2018Review
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.American journal of human genetics · 2017Article
- Genetic, environmental, and epigenetic factors involved in CAKUT.Nature reviews. Nephrology · 2015Review
- A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.Molecular genetics & genomic medicine · 2014Article
- A single-center cohort of Canadian children with VUR reveals renal phenotypes important for genetic studies.Pediatric nephrology (Berlin, Germany) · 2013Article
- Mutations in DSTYK and dominant urinary tract malformations.The New England journal of medicine · 2013Article
- Copy-number disorders are a common cause of congenital kidney malformations.American journal of human genetics · 2012Article
- Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait.Pediatric nephrology (Berlin, Germany) · 2010Article
- Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution.International urology and nephrology · 2009Review
- Genetic approaches to human renal agenesis/hypoplasia and dysplasia.Pediatric nephrology (Berlin, Germany) · 2007Review
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
Nonsyndromic defects in the urinary tract are the most common cause of end-stage renal failure in children and account for a significant proportion of adult nephropathy. The genetic basis of these disorders is not fully understood. We studied seven multiplex kindreds ascertained via an index case with a nonsyndromic solitary kidney or renal hypodysplasia. Systematic ultrasonographic screening revealed that many family members harbor malformations, such as solitary kidneys, hypodysplasia, or ureteric abnormalities (in a total of 29 affected individuals). A genomewide scan identified significant linkage to a 6.9-Mb segment on chromosome 1p32-33 under an autosomal dominant model with reduced penetrance (peak LOD score 3.5 at D1S2652 in the largest kindred). Altogether, three of the seven families showed positive LOD scores at this interval, demonstrating heterogeneity of the trait (peak HLOD 3.9, with 45% of families linked). The chromosome 1p32-33 interval contains 52 transcription units, and at least 23 of these are expressed at stage E12.5 in the murine ureteric bud and/or metanephric mesenchyme. These data show that autosomal dominant nonsyndromic renal hypodysplasia and associated urinary tract malformations are genetically heterogeneous and identify a locus for this common cause of human kidney failure.
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