ArticlePediatric nephrology (Berlin, Germany)2009
Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux.
Article in Pediatric nephrology (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.Human molecular genetics · 2022Article
- Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.Kidney international · 2022Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- Nephron number, hypertension, and CKD: physiological and genetic insight from humans and animal models.Physiological genomics · 2017Review
- Searching for new loci and candidate genes for economically important traits through gene-based association analysis of Simmental cattle.Scientific reports · 2017Article
- New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon.BMC nephrology · 2016Article
- ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.Pediatric research · 2016Article
- Genetics of Vesicoureteral Reflux.Current genomics · 2016Article
- Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.PloS one · 2012Article
- Genetics of vesicoureteral reflux.Nature reviews. Urology · 2011Review
- Genetics of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2011Review
- Lower urinary tract development and disease.Wiley interdisciplinary reviews. Systems biology and medicineReview
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial clustering of vesico-ureteral reflux (VUR) suggests that genetic factors play an important role in the pathogenesis of this condition. The SLIT2 protein and its receptor, ROBO2, have key functions in the formation of the ureteric bud. Two recent studies have found that ROBO2 gene missense mutations are associated with VUR. In the study reported here, we investigated the genetic contribution of the SLIT2 and ROBO2 genes in non-syndromic familial VUR by mutation screening of 54 unrelated patients with primary VUR. Direct sequencing of all 26 exons and the exon-intron boundaries revealed six ROBO2 gene variants, two of which were new. Direct sequencing of all 37 exons and the exon-intron boundaries identified 20 SLIT2 gene variants, two of which were new. One variant, c.4253C > T, which was found in two families, leads to an amino acid substitution in a relatively well-conserved amino acid, p.Ala1418Val, which was predicted to cause an altered secondary structure but to have little impact on the three-dimensional structure. This missense variant did not segregate with VUR in these two families and was not found in 96 control subjects. We conclude that gene variants in ROBO2 and SLIT2 are rare causes of VUR in humans. Our results provide further evidence for the genetic heterogeneity of this disorder.
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