Cystinuria in a Patient With a Novel Mutation in SLC7A9 Gene

Authors

  • Leila Koulivand Pediatrics Inherited Diseases Research Center and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author
  • Mehrdad Mohammadi Department of Urology, Urology and Kidney Transplantation Research Center, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author
  • Behrouz Ezatpour Razi Herbal Medicines Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran Author
  • Majid Kheirollahi Pediatrics Inherited Diseases Research Center and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Author

Abstract

Cystinuria, one of the first inborn errors of metabolism, is characterized by hyperexcretion of cystine, arginine, lysine, and ornithine into urine. Cystinuria is genetically classified into types A and B. Mutations in the SLC3A1 gene lead to type A, and type B is caused by mutations in the SLC7A9 gene. We described a 19-year-old woman that had early onset of cystine calculus formation at the age of 3 years. After DNA extraction and polymerase chain reaction, direct sequencing was performed. By these methods, a novel nucleotide substitution c.177G>A in exon 3 of the SLC7A9 gene was found, which had not been reported elsewhere previously. This nucleotide substitution occurs in the extracellular domain of the SLC7A9 gene. In addition, a previously described intron variant c.1136+2/3delT (intron 6 of SLC3A1) in homozygosity status was detected in the patient. To our knowledge, this is the first report of novel nucleotide substitution c.177G>A in exon 3 of the SLC7A9 gene.

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Published

2015-01-20

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

Cystinuria in a Patient With a Novel Mutation in SLC7A9 Gene. (2015). Iranian Journal of Kidney Diseases, 9(1), 63-66. https://www.ijkd.org/index.php/ijkd/article/view/1622