Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations
| Autor: | Kai-Uwe Eckardt, Peter Nickel, Mira Choi, Yoland-Marie Anistan, Maik Gollasch |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Genetics
Basement membrane congenital hereditary and neonatal diseases and abnormalities Mutation Proteinuria business.industry Glomerular basement membrane urologic and male genital diseases medicine.disease medicine.disease_cause medicine.icd_9_cm_classification Digenic inheritance female genital diseases and pregnancy complications Type IV collagen medicine.anatomical_structure otorhinolaryngologic diseases medicine Alport syndrome medicine.symptom Microhematuria skin and connective tissue diseases business |
| Zdroj: | Nephron. 141:213-218 |
| ISSN: | 2235-3186 1660-8151 |
| DOI: | 10.1159/000495764 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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