Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

Michele Di Perna, Eirini Louizou, Lucia Fischetti, G. V Z Dedoussis, Pietro Stanziale, Helen Michelakakis, Leopoldo Zelante, Elon Pras, Luigi Bisceglia

Research output: Contribution to journalArticle

Abstract

Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria (OMIM 220100), an autosomal recessive disorder of amino acid transport and reabsorption in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. In an attempt to characterize the molecular defect in the SLC3A1 and SLC7A9 genes, we analyzed a cohort of 85 unrelated subjects clinically diagnosed as affected by cystinuria on the basis of stone formation, prevalently of Italian and Greek origin. Analysis of all coding region and exon-intron junctions of the SLC3A1 and SLC7A9 genes by using direct sequencing method allowed us to identify 62 different mutations in 83 out of 85 patients accounting for 90.5% of all affected chromosomes. Twenty-four out of 62 are novel mutations, 9 in SLC3A1 and 15 in SLC7A9. In conclusion, this report expands the spectrum of SLC3A1 and SLC7A9 mutations and confirms the heterogeneity of this disorder.

Original languageEnglish
Pages (from-to)351-355
Number of pages5
JournalGenetic Testing
Volume12
Issue number3
DOIs
Publication statusPublished - Sep 1 2008

ASJC Scopus subject areas

  • Genetics(clinical)

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    Di Perna, M., Louizou, E., Fischetti, L., Dedoussis, G. V. Z., Stanziale, P., Michelakakis, H., Zelante, L., Pras, E., & Bisceglia, L. (2008). Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. Genetic Testing, 12(3), 351-355. https://doi.org/10.1089/gte.2007.0113