Novel ARG1 variants identified in a patient with arginase 1 deficiency

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 pred...

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Main Authors: Katsuyuki Yokoi, Yoko Nakajima, Toshihiro Yasui, Makoto Yoshino, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Format: Article
Language:English
Published: Nature Publishing Group 2021-02-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00139-9
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spelling doaj-ad3eb7bc1a3948c495d974155fbaab482021-02-07T12:15:20ZengNature Publishing GroupHuman Genome Variation2054-345X2021-02-01811410.1038/s41439-021-00139-9Novel ARG1 variants identified in a patient with arginase 1 deficiencyKatsuyuki Yokoi0Yoko Nakajima1Toshihiro Yasui2Makoto Yoshino3Tetsushi Yoshikawa4Hiroki Kurahashi5Tetsuya Ito6Department of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatrics, Fujita Health University School of MedicineDepartment of Pediatric Surgery, Fujita Health UniversityDivision of Gene Therapy and Regenerative Medicine, Cognitive and Molecular Research Institute for Brain Diseases, Kurume UniversityDepartment of Pediatrics, Fujita Health University School of MedicineDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health UniversityDepartment of Pediatrics, Fujita Health University School of MedicineAbstract 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.https://doi.org/10.1038/s41439-021-00139-9
collection DOAJ
language English
format Article
sources DOAJ
author Katsuyuki Yokoi
Yoko Nakajima
Toshihiro Yasui
Makoto Yoshino
Tetsushi Yoshikawa
Hiroki Kurahashi
Tetsuya Ito
spellingShingle Katsuyuki Yokoi
Yoko Nakajima
Toshihiro Yasui
Makoto Yoshino
Tetsushi Yoshikawa
Hiroki Kurahashi
Tetsuya Ito
Novel ARG1 variants identified in a patient with arginase 1 deficiency
Human Genome Variation
author_facet Katsuyuki Yokoi
Yoko Nakajima
Toshihiro Yasui
Makoto Yoshino
Tetsushi Yoshikawa
Hiroki Kurahashi
Tetsuya Ito
author_sort Katsuyuki Yokoi
title Novel ARG1 variants identified in a patient with arginase 1 deficiency
title_short Novel ARG1 variants identified in a patient with arginase 1 deficiency
title_full Novel ARG1 variants identified in a patient with arginase 1 deficiency
title_fullStr Novel ARG1 variants identified in a patient with arginase 1 deficiency
title_full_unstemmed Novel ARG1 variants identified in a patient with arginase 1 deficiency
title_sort novel arg1 variants identified in a patient with arginase 1 deficiency
publisher Nature Publishing Group
series Human Genome Variation
issn 2054-345X
publishDate 2021-02-01
description 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.
url https://doi.org/10.1038/s41439-021-00139-9
work_keys_str_mv AT katsuyukiyokoi novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT yokonakajima novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT toshihiroyasui novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT makotoyoshino novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT tetsushiyoshikawa novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT hirokikurahashi novelarg1variantsidentifiedinapatientwitharginase1deficiency
AT tetsuyaito novelarg1variantsidentifiedinapatientwitharginase1deficiency
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