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Collagenofibrotic Glomerulopathy Associated With Homozygous STAB2 and Heterozygous STAB1 Variants: A Case Report.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Apr 2026

Yamamoto Satoko, Kaimori Jun-Ya, Motooka Daisuke, Taniguchi Hirofumi, Lee Ghahei, Inoue Masataka, Imanaka Tomoka, Yasuda Seiichi, Nishimura Kenji, Kajiwara Nobuyuki, Kawano Yuki, Doi Yohei, Oka Tatsufumi, Sakaguchi Yusuke, Isaka Yoshitaka

Abstract excerpt

This case report investigates the genetic basis of collagenofibrotic glomerulopathy (CG), a type of collagen type III glomerulopathy. It is a rare kidney disease characterized by collagen III deposition. A 47-year-old man with CG, born to consanguineous parents, underwent whole-exome sequencing. A homozygous truncating variant in STAB2 and a heterozygous variant in STAB1 were identified. Neither of the proteins...

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Exome Sequencing
Fibrosis
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Glomerulus

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PMID: 41548739
DOI: 10.1053/j.ajkd.2025.10.016

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STAB2
STAB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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