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

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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.

Original language	English
Article number	8
Journal	Human Genome Variation
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41439-021-00139-9
Publication status	Published - 12-2021

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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title = "Novel ARG1 variants identified in a patient with arginase 1 deficiency",

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.",

author = "Katsuyuki Yokoi and Yoko Nakajima and Toshihiro Yasui and Makoto Yoshino and Tetsushi Yoshikawa and Hiroki Kurahashi and Tetsuya Ito",

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AU - Yokoi, Katsuyuki

AU - Nakajima, Yoko

AU - Yasui, Toshihiro

AU - Yoshino, Makoto

AU - Yoshikawa, Tetsushi

AU - Kurahashi, Hiroki

AU - Ito, Tetsuya

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

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JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

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ER -

Novel ARG1 variants identified in a patient with arginase 1 deficiency

Abstract

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