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Identification of a novel R21X mutation in the liver‐type arginase gene (ARG1) in four Portuguese patients with argininemia
Author(s) -
Cardoso M. Luís,
Martins Esmeralda,
Vasconcelos Rui,
Vilarinho Laura,
Rocha Jorge
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199910)14:4<355::aid-humu20>3.0.co;2-i
Subject(s) - biology , exon , arginase , mutation , microbiology and biotechnology , genetics , gene , restriction enzyme , intron , arginine , transition (genetics) , urea cycle , amino acid
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. Hum Mutat 14:355–356, 1999. © 1999 Wiley‐Liss, Inc.