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ANKRD1 – Hypertrophic cardiomyopathy

ANKRD1 has been evaluated as a candidate autosomal dominant gene in hypertrophic cardiomyopathy (HCM). In a cohort of 384 unrelated HCM patients, three heterozygous missense variants, including c.154C>G (p.Pro52Ala), were each identified in three probands (PMID:19608031). Coimmunoprecipitation assays demonstrated that these ANKRD1 mutations enhance CARP binding to titin/connectin and myopalladin, and neonatal rat cardiomyocyte studies revealed abnormal CARP subcellular localization, consistent with a gain-of-function mechanism (PMID:19608031). No family segregation data are reported. Overall, current evidence from a single well-characterized cohort supports a limited association between ANKRD1 and HCM.

References

  • Journal of the American College of Cardiology • 2009 • Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. PMID:19608031

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Three probands with heterozygous missense ANKRD1 variants in a single cohort without segregation data (PMID:19608031)

Genetic Evidence

Limited

Identification of three missense variants in three unrelated HCM probands, no additional familial segregation (PMID:19608031)

Functional Evidence

Moderate

Co-immunoprecipitation and cardiomyocyte localization assays show enhanced CARP–titin/connectin/myopalladin interactions and mislocalization consistent with HCM pathogenesis (PMID:19608031)