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<p>Here we report a de novo heterozygous <i>MED13</i> variant (c.2503C&gt;T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly. Autopsy revealed mitochondrial abnormalities in cardiac and hepatic tissues, with reduced respiratory chain complex activity. This is the first case report linking a <i>MED13</i> variant to systemic mitochondrial dysfunction, suggesting a novel pathogenic mechanism.</p>

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Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月23日

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  • Mizuki Harada,
  • Takanori Onuki,
  • Hiromi Nyuzuki,
  • Hisato Suzuki,
  • Kozue Ito,
  • Go Hasegawa,
  • Hideki Hayashi,
  • Mari Tada,
  • Toshiki Takenouchi,
  • Kei Murayama,
  • Hiroshi Suzuki

摘要

Here we report a de novo heterozygous MED13 variant (c.2503C>T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly. Autopsy revealed mitochondrial abnormalities in cardiac and hepatic tissues, with reduced respiratory chain complex activity. This is the first case report linking a MED13 variant to systemic mitochondrial dysfunction, suggesting a novel pathogenic mechanism.