Article
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.
Journal of medical genetics - 1 Nov 2022
Cornière Nicolas, Thomson R Brent, Thauvin Stéphanie, Villoutreix Bruno O, Karp Sophie, Dynia Diane W, Burlein Sarah, Brinkmann Lennart, Badreddine Alaa, Dechaume Aurélie, Derhourhi Mehdi, Durand Emmanuelle, Vaillant Emmanuel, Froguel Philippe, Chambrey Régine, Aronson Peter S, Bonnefond Amélie, Eladari Dominique
Abstract excerpt
BACKGROUND: Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health systems worldwide. It results from a combination of environmental and genetic factors. Hyperoxaluria is a major risk factor for NL. METHODS: We used a whole exome-based approach in a patient with calcium oxalate NL. The effects of the mutation were...
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