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Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Families

2015-11Journal article Open access
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dc.contributor.authorNabais Sá, MJ
dc.contributor.authorSampaio, S
dc.contributor.authorOliveira, A
dc.contributor.authorAlves, S
dc.contributor.authorMoura, CP
dc.contributor.authorSilva, SE
dc.contributor.authorCastro, R
dc.contributor.authorAraújo, JA
dc.contributor.authorRodrigues, M
dc.contributor.authorNeves, F
dc.contributor.authorSeabra, J
dc.contributor.authorSoares, C
dc.contributor.authorGaspar, MA
dc.contributor.authorTavares, I
dc.contributor.authorFreitas, L
dc.contributor.authorSousa, TC
dc.contributor.authorHenriques, AC
dc.contributor.authorCosta, FT
dc.contributor.authorMorgado, E
dc.contributor.authorSousa, FT
dc.contributor.authorSousa, JP
dc.contributor.authorda Costa, AG
dc.contributor.authorFilipe, R
dc.contributor.authorGarrido, J
dc.contributor.authorMontalban, J
dc.contributor.authorPonce, P
dc.contributor.authorAlves, R
dc.contributor.authorFaria, B
dc.contributor.authorCarvalho, MF
dc.contributor.authorPestana, M
dc.contributor.authorCarvalho, F
dc.contributor.authorOliveira, JP
dc.date.accessioned2017-01-11T11:27:20Z
dc.date.available2017-01-11T11:27:20Z
dc.date.issued2015-11
dc.description.abstractAlport 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 clinical diagnosis of AS and no evidence of autosomal inheritance, had pathogenic COL4A5 mutations detected by Sanger sequencing and/or multiplex-ligation probe amplification, of which 12 (57%) are novel. Males had more severe and earlier renal and extrarenal complications, but microscopic hematuria was a constant finding irrespective of gender. Nonsense and splice site mutations, as well as small and large deletions, were associated with younger age of onset of SNHL in males, and with higher risk of CRF and SNHL in females. Pathogenic COL4A3 or COL4A4 mutations were subsequently identified in more than half of the families without a pathogenic mutation in COL4A5. The lower than expected prevalence of XLAS in Portuguese families warrants the use of next-generation sequencing for simultaneous COL4A3/COL4A4/COL4A5 analysis, as first-tier approach to the genetic diagnosis of collagen type IV-related nephropathies.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Genet. 2015 Nov;88(5):462-7pt_PT
dc.identifier.doi10.1111/cge.12522pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2608
dc.language.isoengpt_PT
dc.publisherJohn Wiley and Sonspt_PT
dc.subjectAdolescentpt_PT
dc.subjectAdultpt_PT
dc.subjectAgedpt_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectCollagen Type IVpt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectExomept_PT
dc.subjectFemalept_PT
dc.subjectGenetic Association Studiespt_PT
dc.subjectHumanspt_PT
dc.subjectInfantpt_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectNephritis, Hereditarypt_PT
dc.subjectPortugalpt_PT
dc.subjectYoung Adultpt_PT
dc.subjectMutationpt_PT
dc.subjectHDE GENpt_PT
dc.titleCollagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Familiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage467pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage462pt_PT
oaire.citation.volume88pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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