Genetics in medicine : official journal of the American College of Medical Genetics · 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
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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
Аннотация
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 disorders can include neurologic, ophthalmologic, renal, and other organ system pathology and vary widely in symptoms, complicating diagnosis and management.
METHODS: Using a modified eDelphi method, we obtained consensus from international experts across medical subspecialties on the evaluation and management of COL4A1/A2-related disorders, with consensus set at ≥70% agreement.
RESULTS: Consensus was achieved on recommendations for evaluating and managing these conditions.
CONCLUSION: Genetic testing and counseling are advised for individuals showing symptoms of COL4A1/A2-related disorders and for at-risk relatives. Given the complexity and rarity of these disorders, management requires a multidisciplinary approach informed by current understanding of disease mechanisms. Recommended care includes neurological and ophthalmological imaging and monitoring of cardiovascular and renal function. Ongoing research is critical to uncover genotype-phenotype links and potential modifiers, with clinical research participation encouraged to advance knowledge and treatments.
METHODS: Using a modified eDelphi method, we obtained consensus from international experts across medical subspecialties on the evaluation and management of COL4A1/A2-related disorders, with consensus set at ≥70% agreement.
RESULTS: Consensus was achieved on recommendations for evaluating and managing these conditions.
CONCLUSION: Genetic testing and counseling are advised for individuals showing symptoms of COL4A1/A2-related disorders and for at-risk relatives. Given the complexity and rarity of these disorders, management requires a multidisciplinary approach informed by current understanding of disease mechanisms. Recommended care includes neurological and ophthalmological imaging and monitoring of cardiovascular and renal function. Ongoing research is critical to uncover genotype-phenotype links and potential modifiers, with clinical research participation encouraged to advance knowledge and treatments.