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Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

Clinical genetics - 1 Jul 2020

Ochoa Juan P, Lopes Luis R, Perez-Barbeito Marlene, Cazón-Varela Laura, de la Torre-Carpente Maria M, Sonicheva-Paterson Natalia, De Uña-Iglesias David, Quinn Ellen, Kuzmina-Krutetskaya Svetlana, Garrote José A, Elliott Perry M, Monserrat Lorenzo

Abstract excerpt

Despite new strategies, such as evaluating deep intronic variants and new genes in whole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophic cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a novel disease-causing gene for this phenotype, but the relevance and clinical implication of copy-number variations (CNVs) have not been determined. In this study, CNVs were...

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PMID: 32335906
DOI: 10.1111/cge.13759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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