2026-04-14T18:29:37Zhttps://uvadoc.uva.es/oai/requestoai:uvadoc.uva.es:10324/661102025-03-03T07:19:57Zcom_10324_1181com_10324_931com_10324_894col_10324_1387
Ochoa, Juan P.
Lopes, Luis R.
Perez Barbeito, Marlene
Cazón Varela, Laura
Torre Carpente, Maria M. de la
Sonicheva‐Paterson, Natalia
Uña Iglesias, David de
Quinn, Ellen
Kuzmina‐Krutetskaya, Svetlana
Garrote Adrados, José Antonio
Elliott, Perry M.
Monserrat, Lorenzo
2024-02-09T20:01:37Z
2024-02-09T20:01:37Z
2020
Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11. PMID: 32335906.
0009-9163
https://uvadoc.uva.es/handle/10324/66110
10.1111/cge.13759
86
1
90
Clinical Genetics
98
1399-0004
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.
spa
info:eu-repo/semantics/openAccess
John Wiley & Sons Ltd
Cardiología
Genética
Miocardiopatía Hipertrófica Familiar
next-generation sequencing
Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
info:eu-repo/semantics/article