Novel ARG1 variants identified in a patient with arginase 1 deficiency

Katsuyuki Yokoi; Yoko Nakajima; Toshihiro Yasui; Makoto Yoshino; Tetsushi Yoshikawa; Hiroki Kurahashi; Tetsuya Ito

doi:10.1038/s41439-021-00139-9

Novel ARG1 variants identified in a patient with arginase 1 deficiency

Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9.

Authors

Katsuyuki Yokoi^{1

2}, Yoko Nakajima³, Toshihiro Yasui⁴, Makoto Yoshino⁵, Tetsushi Yoshikawa¹, Hiroki Kurahashi², Tetsuya Ito¹

Affiliations

¹ Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
² Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
³ Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan. yonaka@fujita-hu.ac.jp.
⁴ Department of Pediatric Surgery, Fujita Health University, Toyoake, Japan.
⁵ Division of Gene Therapy and Regenerative Medicine, Cognitive and Molecular Research Institute for Brain Diseases, Kurume University, Kurume, 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.