Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/33600
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Campo DC | Valor | Idioma |
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dc.contributor.author | Barbosa, Mafalda Fernanda Cabral Santos | por |
dc.contributor.author | Lopes, A. | por |
dc.contributor.author | Mota, C. | por |
dc.contributor.author | Martins, E. | por |
dc.contributor.author | Oliveira, J. | por |
dc.contributor.author | Alves, S. | por |
dc.contributor.author | Bonis, P. de | por |
dc.contributor.author | Mota, M. do Céu | por |
dc.contributor.author | Dias, C. | por |
dc.contributor.author | Santos, P. Rodrigues | por |
dc.contributor.author | Fortuna, A. M. | por |
dc.contributor.author | Quelhas, D. | por |
dc.contributor.author | Lacerda, L. | por |
dc.contributor.author | Biscegliah, L. | por |
dc.contributor.author | Cardoso, M. L. | por |
dc.date.accessioned | 2015-02-05T12:07:21Z | - |
dc.date.available | 2015-02-05T12:07:21Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0009-9163 | por |
dc.identifier.uri | https://hdl.handle.net/1822/33600 | - |
dc.description.abstract | Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with cystinuria in order to provide insight into genotype-phenotype correlations. We describe seven type I and five non-type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611-2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C (p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with cystinuria. | por |
dc.language.iso | eng | por |
dc.publisher | John Wiley and Sons | por |
dc.rights | restrictedAccess | por |
dc.subject | Cystinuria | por |
dc.subject | MLPA analysis | por |
dc.subject | silent mutation | por |
dc.subject | SLC3A1 gene | por |
dc.subject | SLC7A9 gene | por |
dc.title | Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients | por |
dc.type | article | - |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2011.01638.x | por |
sdum.publicationstatus | published | por |
oaire.citationStartPage | 47 | por |
oaire.citationEndPage | 55 | por |
oaire.citationIssue | 1 | por |
oaire.citationTitle | Clinical Genetics | por |
oaire.citationVolume | 81 | por |
dc.date.updated | 2015-01-30T16:25:53Z | - |
dc.identifier.doi | 10.1111/j.1399-0004.2011.01638.x | por |
dc.identifier.pmid | 21255007 | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Clinical Genetics | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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barbosa m_clin genet 2012.pdf Acesso restrito! | 567,4 kB | Adobe PDF | Ver/Abrir |