RT info:eu-repo/semantics/article
T1 Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
A1 Ochoa, Juan P.
A1 Lopes, Luis R.
A1 Perez‐Barbeito, Marlene
A1 Cazón‐Varela, Laura
A1 de la Torre‐Carpente, Maria M.
A1 Sonicheva‐Paterson, Natalia
A1 De Uña‐Iglesias, David
A1 Quinn, Ellen
A1 Kuzmina‐Krutetskaya, Svetlana
A1 Garrote, José A.
A1 Elliott, Perry M.
A1 Monserrat, Lorenzo
K1 Cardiología
K1 Genética
K1 Miocardiopatía Hipertrófica Familiar
K1 next-generation sequencing
K1 DNA copy-number variations
K1 cardiomyopathies
K1 FHOD3 protein
K1 formins
K1 genetic testing
K1 next-generation sequencing
K1 3205.01 Cardiología
K1 3207.04 Patología Cardiovascular
K1 3201.02 Genética Clínica
AB Despite new strategies, such as evaluating deep intronic variants and new genes inwhole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophiccardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a noveldisease-causing gene for this phenotype, but the relevance and clinical implication ofcopy-number variations (CNVs) have not been determined. In this study, CNVs wereevaluated using a comparative depth-of-coverage strategy by next-generationsequencing (NGS) in 5493 HCM probands and 2973 disease-controls. We detectedthree symmetrical deletions in FHOD3 that involved exons 15 and 16 in three HCMfamilies (no CNVs were detected in the control group). These exons are part of thediaphanous inhibitory domain of FHOD3 protein, considered a cluster of mutationsfor HCM. The clinical characteristics of the affected carriers were consistent withthose reported in FHOD3 in previous studies. This study highlights the importance ofperforming CNV analysis systematically in NGS genetic testing panels for HCM, andreinforces the relevance of the FHOD3 gene in the disease.
PB John Wiley & Sons Ltd
SN 0009-9163
YR 2020
FD 2020
LK https://uvadoc.uva.es/handle/10324/66110
UL https://uvadoc.uva.es/handle/10324/66110
LA spa
NO Clin Genet. 2020 Jul;98(1):86-90. doi: 10.1111/cge.13759. Epub 2020 May 11. PMID: 32335906.
NO Producción Científica
DS UVaDOC
RD 14-oct-2024