A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria

Authors

  • Samaneh Markazi Department of Molecular Genetics, Biotechnology Research Center, Islamic Azad University, Shahrekord, Iran Author
  • Majid Kheirollahi Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Diseases and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author
  • Abbas Doosti Department of Molecular Genetics, Biotechnology Research Center, Islamic Azad University, Shahrekord, Iran Author
  • Mehrdad Mohammadi Depatment of Urology, Urology and kidney Transplantation Research Center, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author
  • Leila Koulivand Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Diseases and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author

Abstract

Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters,  and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, and arginine. Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). In molecular term, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). This report describes 7 patients with early onset of cystine calculus formation. We are report a new mutation in SLC3A1 gene in exon 1. A novel nucleotide substitution c.-29A>G was found in exon 1 of the SLC3A1 gene, which had not been reported elsewhere previously.

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Published

2016-01-29

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. (2016). Iranian Journal of Kidney Diseases, 10(1), 44-47. https://www.ijkd.org/index.php/ijkd/article/view/2195