In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy

Matsukawa, Takashi; Sudo, Atsushi; Kakumoto, Toshiyuki; Hao, Akihito; Kainaga, Mitsuhiro; Chang, Hyangri; Mano, Tatsuo; Ishiura, Hiroyuki; Mitsui, Jun; Hayashi, Toshihiro; Morishita, Shinichi; Tsuji, Shoji; Toda, Tatsushi

doi:10.1038/s41439-025-00309-z

Permalink : https://ousar.lib.okayama-u.ac.jp/68900

ID	68900
フルテキストURL	fulltext.pdf 1.49 MB suppl.docx 19.9 KB
著者	Matsukawa, Takashi Department of Neurology, Graduate School of Medicine, The University of Tokyo Sudo, Atsushi Department of Neurology, Graduate School of Medicine, The University of Tokyo Kakumoto, Toshiyuki Department of Neurology, Graduate School of Medicine, The University of Tokyo Hao, Akihito Department of Neurology, Graduate School of Medicine, The University of Tokyo Kainaga, Mitsuhiro Department of Neurology, Graduate School of Medicine, The University of Tokyo Chang, Hyangri Department of Neurology, Graduate School of Medicine, The University of Tokyo Mano, Tatsuo Department of Neurology, Graduate School of Medicine, The University of Tokyo Ishiura, Hiroyuki Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Mitsui, Jun Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo Hayashi, Toshihiro Department of Neurology, Graduate School of Medicine, The University of Tokyo Morishita, Shinichi Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo Tsuji, Shoji Department of Neurology, Graduate School of Medicine, The University of Tokyo Toda, Tatsushi Department of Neurology, Graduate School of Medicine, The University of Tokyo
抄録	Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.1469_71delTGG (p.Val490del) in a man with AMN. Although this variant has been interpreted as ‘uncertain significance’ in ClinVar, biochemical analysis along with clinical evaluation confirmed the pathogenicity of this variant, underscoring the importance of functional assessment of in-frame deletions.
発行日	2025-02-28
出版物タイトル	Human Genome Variation
巻	12巻
号	1号
出版者	Springer Science and Business Media LLC
開始ページ	5
ISSN	2054-345X
資料タイプ	学術雑誌論文
言語	英語
OAI-PMH Set	岡山大学
著作権者	© The Author(s) 2025
論文のバージョン	publisher
PubMed ID	40021620
DOI	10.1038/s41439-025-00309-z
Web of Science KeyUT	001434452000001
関連URL	isVersionOf https://doi.org/10.1038/s41439-025-00309-z
ライセンス	http://creativecommons.org/licenses/by/4.0/
Citation	Matsukawa, T., Sudo, A., Kakumoto, T. et al. In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy. Hum Genome Var 12, 5 (2025). https://doi.org/10.1038/s41439-025-00309-z
助成機関名	Ministry of Health, Labour and Welfare Japan Agency for Medical Research and Development Japan Society for the Promotion of Science
助成番号	23FC1008 23FC1032 23ek0109673h0001 24ek0109673h0002 22K07413 22K07533