Evidence map›Paper›PMID 40021620›Full record

ArticleHuman genome variation2025

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

Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi and 3 more

Abstract read
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In one paragraph

Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan. matsukawa1012@g.ecc.u-tokyo.ac.jp.
Atsushi SudoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Toshiyuki KakumotoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Akihito HaoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Mitsuhiro KainagaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Hyangri ChangDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Tatsuo ManoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Jun MitsuiDepartment of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.
Toshihiro HayashiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.ORCID http://orcid.org/0000-0003-4362-7439
Shinichi MorishitaDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Japan.
Shoji TsujiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.ORCID http://orcid.org/0000-0001-5602-5686
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) 23ek0109673h0001Japan Agency for Medical Research and Development (AMED) 24ek0109673h0002MEXT | Japan Society for the Promotion of Science (JSPS) 22K07413MEXT | Japan Society for the Promotion of Science (JSPS) 22K07533Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) 23FC1008Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) 23FC1032
6 · The paper itself

Abstract

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.

Identifiers

PMID40021620
PMCPMC11871001

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