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Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9

Authors :
Dijana Plaseska-Karanfilska
Velibor Tasic
P Miljkovic
Esra Baskin
R Bogdanovic
Katerina Popovska-Jankovic
Georgi D. Efremov
Source :
Balkan Journal of Medical Genetics, Vol 12, Iss 1, Pp 15-20 (2009)
Publication Year :
2009
Publisher :
Sciendo, 2009.

Abstract

Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9Cystinuria 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,+AT 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.

Details

Language :
English
ISSN :
13110160
Volume :
12
Issue :
1
Database :
OpenAIRE
Journal :
Balkan Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....fff064663a489c6b7187896a943020c2