dc.contributor.author | Ochoa, Juan P. | |
dc.contributor.author | Lopes, Luis R. | |
dc.contributor.author | Perez Barbeito, Marlene | |
dc.contributor.author | Cazón Varela, Laura | |
dc.contributor.author | Torre Carpente, Maria M. de la | |
dc.contributor.author | Sonicheva‐Paterson, Natalia | |
dc.contributor.author | Uña Iglesias, David de | |
dc.contributor.author | Quinn, Ellen | |
dc.contributor.author | Kuzmina‐Krutetskaya, Svetlana | |
dc.contributor.author | Garrote Adrados, José Antonio | |
dc.contributor.author | Elliott, Perry M. | |
dc.contributor.author | Monserrat, Lorenzo | |
dc.date.accessioned | 2024-02-09T20:01:37Z | |
dc.date.available | 2024-02-09T20:01:37Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11. PMID: 32335906. | es |
dc.identifier.issn | 0009-9163 | es |
dc.identifier.uri | https://uvadoc.uva.es/handle/10324/66110 | |
dc.description | Producción Científica | es |
dc.description.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 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. | es |
dc.format.mimetype | application/pdf | es |
dc.language.iso | spa | es |
dc.publisher | John Wiley & Sons Ltd | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.subject | Cardiología | es |
dc.subject | Genética | es |
dc.subject | Miocardiopatía Hipertrófica Familiar | es |
dc.subject | next-generation sequencing | es |
dc.subject.classification | DNA copy-number variations | es |
dc.subject.classification | cardiomyopathies | es |
dc.subject.classification | FHOD3 protein | es |
dc.subject.classification | formins | es |
dc.subject.classification | genetic testing | es |
dc.subject.classification | next-generation sequencing | es |
dc.title | Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy | es |
dc.type | info:eu-repo/semantics/article | es |
dc.rights.holder | John Wiley & Sons Ltd | es |
dc.identifier.doi | 10.1111/cge.13759 | es |
dc.relation.publisherversion | http://dx.doi.org/10.1111/cge.13759 | es |
dc.identifier.publicationfirstpage | 86 | es |
dc.identifier.publicationissue | 1 | es |
dc.identifier.publicationlastpage | 90 | es |
dc.identifier.publicationtitle | Clinical Genetics | es |
dc.identifier.publicationvolume | 98 | es |
dc.peerreviewed | SI | es |
dc.description.project | MR/T005181/1/MRC_/Medical Research Council/United Kingdom | es |
dc.identifier.essn | 1399-0004 | es |
dc.type.hasVersion | info:eu-repo/semantics/acceptedVersion | es |
dc.subject.unesco | 3205.01 Cardiología | es |
dc.subject.unesco | 3207.04 Patología Cardiovascular | es |
dc.subject.unesco | 3201.02 Genética Clínica | es |