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Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.

Publication ,  Journal Article
Elahi, S; Homstad, A; Vaidya, H; Stout, J; Hall, G; Wu, G; Conlon, P; Routh, JC; Wiener, JS; Ross, SS; Nagaraj, S; Wigfall, D; Foreman, J ...
Published in: Pediatr Nephrol
February 2016

BACKGROUND: Primary 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. METHODS: To 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. RESULTS: The 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). CONCLUSIONS: In 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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Published In

Pediatr Nephrol

DOI

EISSN

1432-198X

Publication Date

February 2016

Volume

31

Issue

2

Start / End Page

247 / 253

Location

Germany

Related Subject Headings

  • Vesico-Ureteral Reflux
  • Urology & Nephrology
  • Tenascin
  • Pedigree
  • Mutation, Missense
  • Mutation
  • Male
  • Joint Instability
  • Infant
  • Humans
 

Citation

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ICMJE
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Elahi, S., Homstad, A., Vaidya, H., Stout, J., Hall, G., Wu, G., … Gbadegesin, R. A. (2016). Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux. Pediatr Nephrol, 31(2), 247–253. https://doi.org/10.1007/s00467-015-3203-6
Elahi, Shan, Alison Homstad, Himani Vaidya, Jennifer Stout, Gentzon Hall, Guanghong Wu, Peter Conlon, et al. “Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.Pediatr Nephrol 31, no. 2 (February 2016): 247–53. https://doi.org/10.1007/s00467-015-3203-6.
Elahi S, Homstad A, Vaidya H, Stout J, Hall G, Wu G, et al. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux. Pediatr Nephrol. 2016 Feb;31(2):247–53.
Elahi, Shan, et al. “Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.Pediatr Nephrol, vol. 31, no. 2, Feb. 2016, pp. 247–53. Pubmed, doi:10.1007/s00467-015-3203-6.
Elahi S, Homstad A, Vaidya H, Stout J, Hall G, Wu G, Conlon P, Routh JC, Wiener JS, Ross SS, Nagaraj S, Wigfall D, Foreman J, Adeyemo A, Gupta IR, Brophy PD, Rabinovich CE, Gbadegesin RA. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux. Pediatr Nephrol. 2016 Feb;31(2):247–253.
Journal cover image

Published In

Pediatr Nephrol

DOI

EISSN

1432-198X

Publication Date

February 2016

Volume

31

Issue

2

Start / End Page

247 / 253

Location

Germany

Related Subject Headings

  • Vesico-Ureteral Reflux
  • Urology & Nephrology
  • Tenascin
  • Pedigree
  • Mutation, Missense
  • Mutation
  • Male
  • Joint Instability
  • Infant
  • Humans