Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Clinical genetics - 1 Nov 2015
Nabais Sá M J, Sampaio S, Oliveira A, Alves S, Moura C P, Silva S E, Castro R, Araújo J A, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar M A, Tavares I, Freitas L, Sousa T C, Henriques A C, Costa F T, Morgado E, Sousa F T, Sousa J P, da Costa A G, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho M F, Pestana M, Carvalho F, Oliveira J P
Abstract excerpt
Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, with...
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