Work

Spectrum of genetic mutations among Iranian patients with primary hyperoxaluria type 1

Year: 2025

Type: article

Abstract: Primary hyperoxaluria type 1 (PH1) is a genetic disorder by defect in the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Here, we report the clinical and molecular data of four Iranian patients with PH1. Whole exome sequencing revealed six pathogenic or likely pathogenic variants in the AGXT gene in the assessed patients. A single case was found to have a likely pathogenic heterozygote variant in the SLC3A1 in addition to a likely pathogenic variant in the AGXT gene. Two novel variants, namely c.547G > T (p.D183Y) and c.647G > A (p.G216E) were detected in this gene in two distinctive patients. Notably, the latter novel variant was inherited in compound heterozygous state with another pathogenic variant in this gene, namely c.971_972del (p.V324Gfs∗7). Most notably, a single patient was found to be homozygote for two likely pathogenic variants in this gene, namely c.710C > T (p.P237L) and c.717_719del (p.F240del). The current study broadens knowledge regarding the spectrum of AGXT mutations among Iranian patients.

Source: Journal of Clinical and Translational Endocrinology Case Reports

DOI: 10.1016/j.jecr.2025.100207