title: Cystinuria in a patient with a novel mutation in SLC7A9 gene.
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.
authors.forename: Leila
authors.initials: L
authors.lastname: Koulivand
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Mohammadi
authors.forename: Behrouz
authors.initials: B
authors.lastname: Ezatpour
authors.affiliation: Pediatrics Inherited Diseases Research Center and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. mkheirollahi@med.mui.ac.ir.
authors.forename: Majid
authors.initials: M
authors.lastname: Kheirollahi
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D003555:Cystinuria / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D009154:Mutation; D010641:Phenotype; D055815:Young Adult
chemical_list: D026923:Amino Acid Transport Systems, Basic; C499489:SLC7A9 protein, human