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

Ochoa, JP; Lopes, LR; Pérez-Barbeito, M; Cazón, L; de la Torre-Carpente, MM; Sonicheva-Paterson, N; de Uña-Iglesias, D; ... Monserrat, L; + view all (2020) Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy. Clinical Genetics , 98 (1) pp. 86-90. 10.1111/cge.13759. Green open access

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Abstract

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 evaluated using a comparative depth-of-coverage strategy by NGS in 5493 hypertrophic cardiomyopathy probands and 2973 disease-controls. We detected three symmetrical deletions in FHOD3 that involved exons 15 and 16 in three HCM families (no CNVs were detected in the control group). These exons are part of the diaphanous inhibitory domain of FHOD3 protein, considered a cluster of mutations for HCM. The clinical characteristics of the affected carriers were consistent with those reported in FHOD3 in previous studies. This study highlights the importance of performing CNV analysis systematically in NGS genetic testing panels for HCM, and reinforce the relevance of the FHOD3 gene in the disease. This article is protected by copyright. All rights reserved.

Type: Article
Title: Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy
Location: Denmark
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/cge.13759
Publisher version: http://dx.doi.org/10.1111/cge.13759
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Cardiomyopathies, Cardiomyopathy, Hypertrophic, DNA Copy Number Variations, FHOD3 protein, human, Formins, Genetic Testing, Next-Generation Sequencing
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10097605
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