ArticleFrontiers in medicine2026
Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-canonical splice site variants remain diagnostically challenging, frequently leading to missed diagnoses or delayed therapeutic intervention. Here, we report a pediatric patient with AS and his mother, both harboring a novel splicing variant in the COL4A5 gene. The proband presented with microscopic hematuria and was found to carry a hemizygous COL4A5 variant (NM_033380.3: c.3374-3T > G) through whole-exome sequencing. To determine the pathogenicity of this variant,
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