Scholarlink

<p>Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in <i>ABCD1</i>, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame <i>ABCD1</i> 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月28日

查看全文
  • 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

摘要

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.