A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report - Takeaways - MDSpire

A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report

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Hypertrophic cardiomyopathy (HCM) is primarily an autosomal dominant disorder, with 60% of cases linked to pathogenic genetic variants.
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A novel splice-site variant (c.1286 + 2delT) in the FHOD3 gene was identified in a Chinese family affected by HCM.
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The proband, an 18-year-old male, exhibited asymmetric myocardial hypertrophy but remained asymptomatic during evaluation.
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Whole-exome sequencing confirmed the presence of the FHOD3 variant in the proband and his mother and brother.
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The FHOD3 c.1286 + 2delT variant is classified as likely pathogenic based on current genetic criteria.

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