ArticlePediatric nephrology (Berlin, Germany)2016
Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
Article in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.Orphanet journal of rare diseases · 2025Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2020Article
- Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation.Scientific reports · 2020Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Vesicoureteral reflux and the extracellular matrix connection.Pediatric nephrology (Berlin, Germany) · 2017Review
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Authors and funding
18 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundPrimary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility.
methodsTo define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17.
resultsThe screening procedure identified 134 individuals from 112 families with PVUR; two families with mutations in ROBO2 were excluded from further analysis. Rare missense variants in TNXB were found in the remaining 110 families, of which 5/55 (9%) families had FPVUR and 2/55 (4%) had NFPVUR. There were no differences in high-grade reflux or renal parenchymal scarring between patients with and without TNXB variants. All patients with TNXB rare variants who were tested exhibited joint hypermobility. Overall we were able to identify causes of FPVUR in 7/57 (12%) families (9% in TNXB and 3% in ROBO2).
conclusionsIn conclusion, the identification of a rare missense variant in TNXB in combination with a positive family history of VUR and joint hypermobility may represent a non-invasive method to diagnose PVUR and warrants further evaluation in other cohorts.
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