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Article

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

BMC nephrology - 16 May 2018

Voskarides Konstantinos, Papagregoriou Gregory, Hadjipanagi Despina, Petrou Ioanelli, Savva Isavella, Elia Avraam, Athanasiou Yiannis, Pastelli Androulla, Kkolou Maria, Hadjigavriel Michalis, Stavrou Christoforos, Pierides Alkis, Deltas Constantinos

Abstract excerpt

BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal...

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Identifiers

PMID: 29764427
DOI: 10.1186/s12882-018-0906-5
PMCID: PMC5954460

Genes

LAMA5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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