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Updated: Nov 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel ARG1 variants identified in a patient with arginase 1 deficiency
Katsuyuki Yokoi1,2, Yoko Nakajima3, Toshihiro Yasui4
1Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Abstract:
We report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.

