title: Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
abstract: Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.
authors.affiliation: Department of Pediatrics and Research Laboratory for Mitochondrial Disorders, Ajou University School of Medicine, Suwon, Korea.
authors.forename: Eun Ha
authors.initials: EH
authors.lastname: Lee
authors.forename: Yeun Hee
authors.initials: YH
authors.lastname: Kim
authors.forename: Jin Soon
authors.initials: JS
authors.lastname: Hwang
authors.forename: Sung Hwan
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D003553:Cystine / Q000097:blood; D003555:Cystinuria / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D056910:Republic of Korea
chemical_list: D026923:Amino Acid Transport Systems, Basic; D000596:Amino Acids; C499489:SLC7A9 protein, human; D003553:Cystine