ArticleCureus2025
An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.
Article in Cureus, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
We report the case of a 55-year-old woman with chronic asymptomatic hematuria and a longstanding diagnosis of thin basement membrane disease, presenting with worsening hypertension and a significant degree of proteinuria progressing to chronic kidney disease. Genetic sequencing identified a heterozygous pathogenic variant in the COL4A4 gene (c.1321_1369+3del), a 52-base pair deletion that disrupts normal ribonucleic acid (RNA) splicing in the exon 20/intron 20 junction. In silico analysis predicted the complete loss of the canonical splice site, leading to improper splicing and the dysfunction of the α4 chain of type-IV collagen. Genetic testing in the family confirmed the presence of the same variant in two additional generations. To our knowledge, this is the first reported family in which the c.1321_1369+3del mutation is the sole cause of autosomal dominant Alport syndrome.
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