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

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

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

6 被引用数 (Scopus)

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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.

本文言語	英語
論文番号	8
ジャーナル	Human Genome Variation
巻	8
号	1
DOI	https://doi.org/10.1038/s41439-021-00139-9
出版ステータス	出版済み - 12-2021
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/s41439-021-00139-9

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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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doi = "10.1038/s41439-021-00139-9",

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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

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Novel ARG1 variants identified in a patient with arginase 1 deficiency

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