Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations

Mira Choi, Yoland-Marie Anistan, Kai-Uwe Eckardt, Maik Gollasch & Peter Nickel
Microscopic hematuria is a common feature of patients with Alport syndrome, a familial nephropathy due to mutations in COL4A3, COL4A4 or COL4A5. These genes encode for α3, α4, and α5 type IV collagen polypeptide chains (collagen IV α345), crucial for the structural component of the glomerular basement membrane. Even patients with mild phenotype, namely isolated microhematuria (X-linked females with thin basement membrane on electron microscopy or heterozygous carriers of COL4A3 or COL4A4 mutations), can potentially...
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