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Article

Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.

Journal of medical genetics - 19 Apr 2024

Piqueras-Flores Jesús, Villacorta-Argüelles Eduardo, Galvin Joseph, Climent-Payá Vicente, Escobar-López Luis Enrique, Amor-Salamanca Almudena, Garcia-Hernandez Soledad, Esmonde Sean, Martínez-Del Río Jorge, Soto-Pérez Maeve, Garcia-Pavia Pablo, Ochoa Juan Pablo

Abstract excerpt

Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases of biallelic variants associated with disease have been described to date. From 2014 until 2021, FHOD3 was evaluated in our center by next-generation sequencing in 22 806 consecutive unrelated probands. The p.Arg637Gln variant in FHOD3 was enriched...

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Identifiers

PMID: 38160043
DOI: 10.1136/jmg-2023-109413

Genes

FHOD3

Variants

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