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. 1999 Oct;14(4):355-6.
doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I.

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia

M L Cardoso  1 , E Martins, R Vasconcelos, L Vilarinho, J Rocha
Affiliations

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia

M L Cardoso et al. Hum Mutat. 1999 Oct.

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.

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