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… Click to show full abstract
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.
Keywords:
infantile spasms;
med13 variant;
mitochondrial dysfunction;
case;
cardiomyopathy hepatomegaly
Journal Title: Human Genome Variation
Year Published: 2025
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Journal Title: Human Genome Variation
Year Published: 2025
Link to full text (if available)
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recommendations!