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Título
Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
Autor
Año del Documento
2020
Editorial
John Wiley & Sons Ltd
Descripción
Producción Científica
Documento Fuente
Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11. PMID: 32335906.
Résumé
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 next-generation
sequencing (NGS) in 5493 HCM 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
reinforces the relevance of the FHOD3 gene in the disease.
Materias (normalizadas)
Cardiología
Genética
Miocardiopatía Hipertrófica Familiar
next-generation sequencing
Materias Unesco
3205.01 Cardiología
3207.04 Patología Cardiovascular
3201.02 Genética Clínica
Palabras Clave
DNA copy-number variations
cardiomyopathies
FHOD3 protein
formins
genetic testing
next-generation sequencing
ISSN
0009-9163
Revisión por pares
SI
Patrocinador
MR/T005181/1/MRC_/Medical Research Council/United Kingdom
Version del Editor
Propietario de los Derechos
John Wiley & Sons Ltd
Idioma
spa
Tipo de versión
info:eu-repo/semantics/acceptedVersion
Derechos
openAccess
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material complementario
![](/bitstream/handle/10324/66110/Fig_1.jpg?sequence=3&isAllowed=y)
Galería: Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
figura 1
![](/bitstream/handle/10324/66110/Fig_2.jpg?sequence=4&isAllowed=y)
Galería: Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
figura 2
![](/bitstream/handle/10324/66110/Fig_3.jpg?sequence=5&isAllowed=y)
Galería: Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
figura 3
![](/bitstream/handle/10324/66110/graphical_abstract.jpg?sequence=6&isAllowed=y)
Galería: Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
Abstract gráfico
![](/bitstream/handle/10324/66110/Fig_1.jpg?sequence=3&isAllowed=y)
![](/bitstream/handle/10324/66110/Fig_2.jpg?sequence=4&isAllowed=y)
![](/bitstream/handle/10324/66110/Fig_3.jpg?sequence=5&isAllowed=y)
![](/bitstream/handle/10324/66110/graphical_abstract.jpg?sequence=6&isAllowed=y)