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Article

A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85-Associated Steroid-Resistant Nephrotic Syndrome.

Clinical genetics - 1 Jul 2025

Kurt-Şükür Eda Didem, Timucin Emel, Baştuğ Turgut, Ozaltin Fatih

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) is a severe kidney disorder linked to over 60 genes, including NUP85, which plays a key role in nuclear pore function and glomerulogenesis. We identified a novel homozygous NUP85 variant (NM_024844.5: c.1379G > A, p.Arg460Gln) in a pediatric SRNS patient who also presented with cleft lip-palate and mild intellectual disability, marking the first reported association of...

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Identifiers

PMID: 39949197
DOI: 10.1111/cge.14703

Genes

NUP85

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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