COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

doi:10.1016/j.gim.2025.101514

Article

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025

Tambala Diana, Vassar Rachel, Snow John, Balestrini Simona, Bersano Anna, Guey Stéphanie, Bonaventura Eleonora, Signorini Sabrina, Sartori Stefano, Bertini Enrico, Tonduti Davide, Parazzini Cecilia, Macchiaiolo Marina, Pelizza Maria Federica, Pichiecchio Anna, Massella Laura, Coste Thibault, Orcesi Simona, Politano Davide, Bacci Giacomo, Marziali Elisa, Dollfus Helene, Mandelli Anna, Chinali Marcello, Plaisier Emmanuelle, Simioni Paolo, Colombatti Raffaella, Guerrini Renzo, Tournier-Lasserve Elisabeth, Gould Douglas B, Musolino Patricia L

Abstract excerpt

PURPOSE: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basement membrane integrity, contributing to structural stability and cell regulation. Pathogenic variants in these genes cause a spectrum of autosomal dominant and, more rarely, autosomal recessive disorders, which are collectively known as COL4A1/A2-related disorders. These multisystem...

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Humans
Collagen Type IV

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

Abstract excerpt

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