title: Mutations in the SLC3A1 transporter gene in cystinuria.
abstract: Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this report we describe four additional cystinuria-associated mutations in this gene: a frameshift, a deletion, a transversion inducing a critical amino acid change, and a nonsense mutation. The latter stop codon was found in all of eight Ashkenazi Jewish carrier chromosomes examined. This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families.
authors.affiliation: Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892-1820, USA.
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: N
authors.initials: N
authors.lastname: Raben
authors.forename: E
authors.initials: E
authors.lastname: Golomb
authors.forename: N
authors.initials: N
authors.lastname: Arber
authors.forename: I
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: J M
authors.initials: JM
authors.lastname: Schapiro
authors.forename: D
authors.initials: D
authors.lastname: Harel
authors.forename: G
authors.initials: G
authors.lastname: Katz
authors.forename: U
authors.initials: U
authors.lastname: Liberman
authors.forename: M
authors.initials: M
authors.lastname: Pras
mesh_terms: D000569:Americas / Q000208:ethnology; D026923:Amino Acid Transport Systems, Basic; D000596:Amino Acids / Q000378:metabolism*; D001483:Base Sequence; D001692:Biological Transport; D002352:Carrier Proteins / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003555:Cystinuria / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D015894:Genome, Human; D006579:Heterozygote; D006801:Humans; D007492:Iran / Q000208:ethnology; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics; D015006:Yemen / Q000208:ethnology
chemical_list: D026923:Amino Acid Transport Systems, Basic; D000596:Amino Acids; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human