Article
Adult-Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational Spectrum.
Clinical genetics - 1 Feb 2026
Babazade Ali, Cetin Taha Enes, Helvacı Ozant, Seckin Ozden, Kayhan Gulsum
Abstract excerpt
TNS2-related Nephrotic Syndrome (TNS2-NS) is a rare form of nephrotic syndrome inherited in an autosomal recessive manner, caused by pathogenic variants in the TNS2 gene. Only five cases have been documented, all involving biallelic missense variants with symptoms appearing in early childhood. We describe a 34-year-old man with nephrotic syndrome who was found to have a homozygous stop-gain mutation in TNS2 via...
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