{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:08:51Z","timestamp":1792804131109,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,2,14]],"date-time":"2011-02-14T00:00:00Z","timestamp":1297641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do C\u00e9u Mota M, Dias C, Rodrigues\u2010Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.<\/jats:p><jats:p>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\u2010type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, Cystinuria is classified as type A (mutations on <jats:italic>SLC3A1<\/jats:italic> gene) and type B (mutations on <jats:italic>SLC7A9<\/jats:italic> 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\u2013phenotype correlations. We describe seven type I and five non\u2010type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In <jats:italic>SLC3A1<\/jats:italic> gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611\u20102A&gt;C; c.1136+44G&gt;A; c.1597T (p.Y533N); c.*70A&gt;G, were found. One large genomic rearrangement was found in <jats:italic>SLC7A9<\/jats:italic> gene as well as 24 sequence variants including 3 novel variants: c.216C&gt;T (p.C72C), c.1119G&gt;A (p.S373S) and c.*82C&gt;T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T&gt;C ( p.M467T) (11.1%). This report expands the spectrum of <jats:italic>SLC3A1<\/jats:italic> and <jats:italic>SLC7A9<\/jats:italic> mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with Cystinuria.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01638.x","type":"journal-article","created":{"date-parts":[[2011,1,21]],"date-time":"2011-01-21T22:48:19Z","timestamp":1295650099000},"page":"47-55","source":"Crossref","is-referenced-by-count":38,"title":["Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 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