Publication
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families
| dc.contributor.author | Sá, MJ | |
| dc.contributor.author | Storey, H | |
| dc.contributor.author | Flinter, F | |
| dc.contributor.author | Nagel, M | |
| dc.contributor.author | Sampaio, S | |
| dc.contributor.author | Castro, R | |
| dc.contributor.author | Araújo, JA | |
| dc.contributor.author | Gaspar, MA | |
| dc.contributor.author | Soares, C | |
| dc.contributor.author | Oliveira, A | |
| dc.contributor.author | Henriques, AC | |
| dc.contributor.author | Costa, AG | |
| dc.contributor.author | Abreu, CP | |
| dc.contributor.author | Ponce, P | |
| dc.contributor.author | Alves, R | |
| dc.contributor.author | Pinho, L | |
| dc.contributor.author | Silva, SE | |
| dc.contributor.author | Moura, CP | |
| dc.contributor.author | Mendonça, L | |
| dc.contributor.author | Carvalho, F | |
| dc.date.accessioned | 2014-10-26T19:43:21Z | |
| dc.date.available | 2014-10-26T19:43:21Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Clin Genet. 2014 Oct 13. doi: 10.1111/cge.12522. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.23/718 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.subject | Colágenio Tipo IV | por |
| dc.subject | Doenças do Rim | por |
| dc.subject | Portugal | por |
| dc.title | Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |