FIVE NOVEL MUTATIONS IN CYSTINURIA GENES SLC3A1 AND SLC7A9
Popovska-Jankovic K1, Tasic V2, Bogdanovic R3, Miljkovic P4, Baskin E5, Efremov GD1, Plaseska-Karanfilska D1
*Corresponding Author: Dr. Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 15
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Abstract

Cystinuria is an autosomal recessive disorder that is characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and epithelial cells of the gastrointestinal tract. The transport of these amino acids is mediated by the rBAT/b0,+A  transporter, the subunits of which are encoded by the genes SLC3A1, located on chromosome 2p16.3-21, and SLC7A9, located on chromosome 19q12-13.1. Based on the urinary cystine excretion patterns of obligate heterozygotes, cystinuria is classified into type I (normal amino acid urinary pattern in heterozygotes) and non type I (a variable degree of urinary hyper excretion of cystine and dibasic amino acids in heterozygotes). On the basis of genetic aspects, cystinuria is classified into type A, is caused by mutations in both alleles of SLC3A1; type B, caused by mutations in both alleles of SLC7A9 and type AB, is caused by one mutation in SLC3A1 and one mutation in SLC7A9. Here we present two novel mutations in the SLC3A1 gene (C242R and L573X), which were found in patients from Serbia, and three in the SLC7A9 gene (G73R, V375I, 1048-1051 delACTC), found in patients from Serbia, Macedonia and Turkey, respectively.

Key words: Cystinuria, Mutation, SLC3A1 gene, SLC7A9 gene
 

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1 Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia

2 Faculty of Medicine, Pediatric Clinic, Skopje, Republic of Macedonia

3 Institute of Mother and Child Healthcare, Belgrade, Serbia

4 Clinical Centre, Clinic for Pediatrics, Nis, Serbia

5 Baskent University, Faculty of Medicine, Ankara, Turkey




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