title: Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.
abstract: Cystinuria, a hereditary disorder of cystine and dibasic amino acid reabsorption, has been classified into three subtypes on the basis of urinary excretion in obligate heterozygous parents. Thirteen cystinuric patients, identified primarily through the Quebec newborn urinary screening program, were investigated by phenotypic classification and by mutational analysis of the D2H (rBAT) gene. Mutations were identified on 7 of 25 alleles; all of these 7 mutant alleles were associated with Type I cystinuria. Four of the mutations (a large deletion, a 5'splice site mutation, a 2 bp deletion, and a nonsense mutation) have not been previously reported. These findings suggest that abnormalities in the D2H gene may account for only one subtype (Type I) of cystinuria, and that this subtype can be caused by a wide variety of population-specific mutations.
authors.affiliation: Department of Pediatrics, McGill University-Montreal Children's Hospital, Quebec, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Horsford
authors.forename: I
authors.initials: I
authors.lastname: Saadi
authors.forename: J
authors.initials: J
authors.lastname: Raelson
authors.forename: P R
authors.initials: PR
authors.lastname: Goodyer
authors.forename: R
authors.initials: R
authors.lastname: Rozen
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D001693:Biological Transport, Active / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D003553:Cystine / Q000378:metabolism; D003555:Cystinuria / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011792:Quebec
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D017931:DNA Primers; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D003553:Cystine; D004247:DNA