Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.23/718
Título: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families
Autor: Sá, MJ
Storey, H
Flinter, F
Nagel, M
Sampaio, S
Castro, R
Araújo, JA
Gaspar, MA
Soares, C
Oliveira, A
Henriques, AC
Costa, AG
Abreu, CP
Ponce, P
Alves, R
Pinho, L
Silva, SE
Moura, CP
Mendonça, L
Carvalho, F
Palavras-chave: Colágenio Tipo IV
Doenças do Rim
Data: 2014
Citação: Clin Genet. 2014 Oct 13. doi: 10.1111/cge.12522.
Resumo: Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygous/compound heterozygous and apparently heterozygous patients. Seventeen novel and four reportedly pathogenic COL4A3/COL4A4 mutations were identified in 62.5% (25/40) of the probands. Regardless of the mutated gene, all patients with ARAS manifested chronic renal failure (CRF) and hearing loss, whereas a minority of the apparently heterozygous patients had CRF or extrarenal symptoms. CRF was diagnosed at a significantly younger age in patients with ARAS. In our families, the occurrence of COL4A3/COL4A4 mutations was higher, while the prevalence of XLAS was lower than expected. Overall, a pathogenic COL4A3/COL4A4/COL4A5 mutation was identified in >50% of patients with fewer than three of the standard diagnostic criteria of AS. With such a population background, simultaneous next-generation sequencing of all three genes may be recommended as the most expedite approach to diagnose collagen IV-related glomerular basement membrane nephropathies.
Peer review: yes
URI: http://hdl.handle.net/10400.23/718
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