Pathogenic variants in have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney with hydronephrosis of upper pole system and bilateral kidney hypoplasia within the same family. Additionally, two family members were found to have optic nerve abnormalities further supporting the impact of the variant. This is the first report of a variant associated with bilateral kidney agenesis.
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| http://dx.doi.org/10.1093/ckj/sfaa013 | DOI Listing |
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