ArticleFrontiers in cardiovascular medicine2026
A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report.
Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hypertrophic cardiomyopathy (HCM) predominantly manifests as an autosomal dominant disorder, with approximately 60% of cases carrying pathogenic or likely pathogenic genetic variants. Although more than 90% of pathogenic variants in HCM patients occur in eight core sarcomeric protein-encoding genes, some cases may be linked to variants in additional genes. Formin Homology 2 Domain Containing 3 (FHOD3), which encodes a non-sarcomeric protein, has been associated with the pathogenesis of HCM. Here, we report a young male patient with asymmetric myocardial hypertrophy assessed by echocardiography, who was asymptomatic. Whole-exome sequencing was performed on the proband, and candidate variants were validated by Sanger sequencing. A heterozygous putative splice-site variant (c.1286 + 2delT) in FHOD3 gene was identified in the proband, as well as in his mother and brother. This variant has mainly been reported in Chinese cohorts and may represent a population-enriched variant, although further studies are required to confirm this observation.
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