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Possible digenic disease in a caucasian family with COL4A3 and COL4A5 mutations

Item Type:Article
Title:Possible digenic disease in a caucasian family with COL4A3 and COL4A5 mutations
Creators Name:Choi, M. and Anistan, Y.M. and Eckardt, K.U. and Gollasch, M. and Nickel, P.
Abstract: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 progress to proteinuria and to end-stage renal disease. Recent pedigree analyses provided evidence for digenic inheritance of Alport syndrome by concomitant mutations in COL4A3/COL4A4 or COL4A4/COL4A5. We describe a Caucasian family with concomitant COL4A3 and COL4A5 mutations, consisting of a novel c.4484A>G COL4A3 (p.Gln1495Arg) mutation and a previously reported c.1871G>A COL4A5 (p.Gly624Asp) mutation. Our segregation analysis raises the possibility that Alport syndrome resembles also digenic inheritance by COL4A3/COL4A5.
Keywords:COL4A3, COL4A5, Alport Syndrome, Digenic Inheritance, Familial Hematuria, Genetic Diseases, Thin Basement Membrane
Page Range:213-218
Date:March 2019
Official Publication:https://doi.org/10.1159/000495764
PubMed:View item in PubMed

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