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

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

  • By

  • Bing-Yang Zhou

  • Ying-Yi Zhang

  • Ning Ren

  • Jie Geng

  • May 29, 2026

  • 0 min

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Objective:

To identify a genetic variant associated with hypertrophic cardiomyopathy (HCM) in a Chinese family.

Key Findings:
  • A heterozygous splice-site variant (c.1286 + 2delT) in the FHOD3 gene was identified in the proband and his family members.
Interpretation:

Limitations:
  • Further studies are required to confirm the pathogenicity of the FHOD3 variant.
  • The study is limited to a single family case.
Conclusion:

The identification of the FHOD3 variant contributes to the understanding of genetic factors in HCM.

Original Source(s)

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

  • by Bing-Yang Zhou, Ying-Yi Zhang, Ning Ren, Jie Geng

  • May 29, 2026

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