ABCD1帧内缺失变体在散发性肾上腺脑白质营养不良病例中的表现。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-02-28 DOI:10.1038/s41439-025-00309-z

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

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引用次数: 0

摘要

肾上腺白质营养不良（ALD）是一种由ABCD1致病性变异引起的x连锁白质营养不良，表现出从儿童期发病的大脑形式到成人发病的肾上腺白质神经病变（AMN）的广泛表型。我们报告一例罕见的帧内ABCD1缺失c.1469_71delTGG （p.Val490del）。尽管这种变异在ClinVar中被解释为“不确定的意义”，生化分析和临床评估证实了这种变异的致病性，强调了框架内缺失功能评估的重要性。

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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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks