Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.

ABSTRACT:

Objective

Argininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.

Methods

The peripheral blood samples were collected from the family members, and genomic DNA was extracted for gene diagnosis using the total exon sequencing method. The novel mutation gene was cloned into pEGFP-C1 vector, and the pathogenicity of the mutation was examined in cultured cells in vitro.

Results

The clinical diagnosis of the proband as ASA was clear. Two pathogenic mutations, c.281G>T (p.Arg94Leu) and c.208-15 T>A were detected in the ASL gene, and the two mutations had not been reported. The minigene expression in vitro conf

SUBMITTER: Wang Y 

PROVIDER: S-EPMC6533879 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature