Novel ARG1 variants identified in a patient with arginase 1 deficiency.
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ABSTRACT:
SUBMITTER: Yokoi K
PROVIDER: S-EPMC7862390 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Publications
Novel ARG1 variants identified in a patient with arginase 1 deficiency.
Yokoi Katsuyuki K Nakajima Yoko Y Yasui Toshihiro T Yoshino Makoto M Yoshikawa Tetsushi T Kurahashi Hiroki H Ito Tetsuya T
Human genome variation 20210204 1
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. ...[more]
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