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X-Linked Glomerulopathy Due to COL4A5 Founder Variant.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Mar 2018

Barua Moumita, John Rohan, Stella Lorenzo, Li Weili, Roslin Nicole M, Sharif Bedra, Hack Saidah, Lajoie-Starkell Ginette, Schwaderer Andrew L, Becknell Brian, Wuttke Matthias, Köttgen Anna, Cattran Daniel, Paterson Andrew D, Pei York

Abstract excerpt

Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases. Alport syndrome has a variable clinical presentation, including progressive kidney failure, hearing loss, and ocular defects. Exome sequencing performed in 2 affected related males with...

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Identifiers

PMID: 29198386
DOI: 10.1053/j.ajkd.2017.09.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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X-Linked Glomerulopathy Due to COL4A5 Founder Variant.PMID 29198386Read ↗

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A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case reportSemantic proximity Read ↗

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.Semantic proximity Read ↗

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome PhenotypeSemantic proximity Read ↗

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