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