In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
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.
Authors
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Jun Mitsui
- Mitsuhiro Kainaga (ORCID: https://orcid.org/0000-0002-6196-5901)
- Tatsuo Mano (ORCID: https://orcid.org/0000-0002-0826-2596)
- Tatsushi Toda (ORCID: https://orcid.org/0000-0002-0717-1123)
- Shinichi Morishita (ORCID: https://orcid.org/0000-0002-6201-8885)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- Atsushi Sudo (ORCID: https://orcid.org/0000-0002-2722-910X)
- Toshiyuki Kakumoto (ORCID: https://orcid.org/0000-0002-1147-9454)
- Akihito Hao (ORCID: https://orcid.org/0000-0003-2286-3328)
- Toshihiro Hayashi (ORCID: https://orcid.org/0000-0003-4362-7439)
- Takashi Matsukawa (ORCID: https://orcid.org/0000-0002-5925-9450)
- Hyangri Chang
Institutions
- Okayama University (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-02-28
- DOI
- https://doi.org/10.1038/s41439-025-00309-z
- Primary Topic
- Peroxisome Proliferator-Activated Receptors
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science