title: Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
abstract: Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from Madeira Island) we performed a DNA sequence analysis of all the exons and exon/intron boundaries of the liver-type arginase gene (ARG1). All patients were found to be homozygous for a newly identified C ->T transition in codon 21 (exon 2) substituting arginine for a premature stop codon (R21X: CGA to TGA) and generating a NlaIII restriction site. Restriction digestion following PCR amplification of ARG1 exon 2 confirmed the presence of the mutation.
authors.affiliation: Unidade de Biologia Clínica, Instituto de Genética Médica (IGM), Porto, Portugal.
authors.forename: M L
authors.initials: ML
authors.lastname: Cardoso
authors.forename: E
authors.initials: E
authors.lastname: Martins
authors.forename: R
authors.initials: R
authors.lastname: Vasconcelos
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: J
authors.initials: J
authors.lastname: Rocha
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics*; D001119:Arginase / Q000235:genetics*; D001120:Arginine / Q000097:blood*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D001120:Arginine; D001119:Arginase