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Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

Abstract：

OBJECTIVES:Biallelic mutations in the ARG1 gene result in an uncommon autosomal recessive inborn defect of the urea cycle known as hyperargininemia (OMIM #207800). ARG1 splicing mutations are not reported often, and they are probably related to a more severe phenotype than missense mutations. In this article, we describe the results of molecular studies in a young hyperargininemia patient carrying a novel splicing mutation in ARG1. DESIGN AND METHODS:Molecular analyses included PCR amplification and direct nucleotide sequencing of the ARG1 gene. RT-PCR analysis was performed to investigate the effect of the mutation in mRNA splicing and in the expression of ARG1 isoforms. RESULTS:Mutational analysis identified a novel homozygous ARG1 IVS4-1G>C point mutation in the patient's DNA. Blood leukocyte mRNA was analyzed to demonstrate the splicing defect caused by this mutation. Sequencing of ARG1 RT-PCR products allowed the characterization of a mutated transcript retaining 51-bp from intron 4. In addition, two new, alternatively spliced ARG1 transcripts lacking either exon 4 or exons 4 and 5 were identified in mRNA from the patient and from controls. CONCLUSIONS:Our results expand the mutational spectrum in hyperargininemia patients and indicate that the novel splicing mutation results in an aberrant transcript retaining intronic sequences. Two novel alternatively spliced ARG1 transcripts were also recognized.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Villegas-Ruiz V,Campos-Garcia FJ,Contreras-Capetillo S,Moreno-Graciano CM,Maldonado-Solis FA,Maldonado-Solis MA,Zenteno JC

doi

10.1016/j.clinbiochem.2015.07.015

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

1273-6

issue

18

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(15)00276-3

journal_volume

48

pub_type

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