ArticleMolecular syndromology2025
A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression.
Article in Molecular syndromology, 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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Abstract
Introduction: Alport syndrome (AS) is a rare genetic disorder characterized by abnormalities in the kidneys, ears, and eyes. Its clinical presentation typically manifests in childhood or adolescence and varies widely among affected individuals, ranging from isolated hematuria to end-stage renal disease. The genetic causes of AS primarily involve mutations in the genes encoding type IV collagen Case Presentation: Here we report a Moroccan consanguineous family with an 18-year-old girl who presented with advanced renal failure and microscopic hematuria. Her audiometry revealed hearing impairment. Urinalysis performed in all the asymptomatic family members showed microscopic hematuria in the mother and younger sister, while computed tomography excluded a urologic cause. Using next-generation sequencing analysis, we identified in the proband a nonsense homozygous variant in the Conclusion: We report a novel nonsense pathogenic variant in
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