Ivonne J. Cárdenas-Reyes's research while affiliated with playence Spain S.L. and other places
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Publications (8)
Purpose
Establish the genotype/phenotype correlation for missense undescribed variants in ACTC1, and evaluate their prognostic implications.
Methods
A systematic screening for the ACTC1 gene was performed using NGS in 17,683 individuals with inherited cardiovascular disease, 6,984 of them with hypertrophic cardiomyopathy, 3,507 with dilated cardio...
Introduction and objectives
Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. Mutations in CSRP3 have been associated with HCM, but evidence supporting pathogenicity is inconclusive. In this study, we describe an HCM cohort with a missense variant in CSRP3 (p.Cys150Tyr) with supporting...
Objective
Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the...
Background: The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have a role in the pathogenesis of cardiac hypertrophy but has not been implicated in hypertrophic cardiomyopathy. Objectives: This study sought to investigate the relation between...
Resumen
Las cardiopatías familiares son un grupo de enfermedades con alta heterogeneidad clínica y genética. Debido a que pueden heredarse y a su asociación con la muerte súbita, se recomienda efectuar un estudio clínico y genético del individuo afectado y su familia a través de una unidad especializada. Con la implementación de la secuenciación ma...
Sudden death risk in carriers of KCNH2 mutations. Influence of gender, location and type of mutation
Citations
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... Cys58GLy) showed impaired binding affinity to alpha-actinin (Geier et al., 2003). In another study involving 6456 HCM patients, the CSRP3 variant (p.Cys150Tyr) was identified in 11 unrelated patients (Salazar-Mendiguchía et al., 2020). In a more recent study by Huang et al. (2022), WES was performed in a Chinese family with HCM, and the truncating CSRP3 variant (p.Arg122Ter) was identified and considered pathogenic (Huang et al., 2022). ...
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... 51 Augmentation of MuRF1 expression promotes muscle atrophy, 37 whereas reduction in MuRF1 expression caused by rare recessive human pathogenic variants in TRIM63 promotes hypertrophic remodeling. 52 We speculate that the reduced levels of MuRF1 protein (despite normal transcripts) in ALPK3 ins/del and ALPK3 dIC/dIC hiPSC-CMs could reflect its heightened consumption, which may contribute to the accumulation of M-band and thick filament proteins that was observed in ALPK3 mutant hiPSC-CMs. This could explain the eventual emergence of hypertrophy in surviving neonates who initially present with cardiac dilation, and in adults with heterozygous ALPK3 variants 6 ( Figure 7). ...
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... J.M. Larrañaga-Moreira et al. описали 32-летнюю женщину с одышкой, застоем по обоим кругам кровообращения через 1 нед. после родов, LQTS (QTс 561 мс), ФВ ЛЖ -36% с восставнолением ФВ ЛЖ через 6 мес., мутацией в гене CACNA1C (экзон 12), кодирующем aльфа-1-субъединицу вольтаж-зависимого кальциевого канала L-типа [26]. ...
... A number of non-sarcomeric pathogenic variants with moderate to strong evidence of pathogenicity may be included in the initial tier of genes tested, including CSRP3, JPH2, ALPK3, and FHOD3. [311][312][313][314] Expanding to larger panels, including the genes summarized in Supplementary material online, Table S13, usually does not add diagnostic value. 69,315 Initial genetic testing is usually performed in the index case (proband). ...
Reference: Genetic Testing Consensus 2022
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... The different phenotypes and modes of inheritance encourage diagnostics screening and diagnosis during genetic counseling for families with members known to have the condition. 4,5 Therefore, the collaboration between cardiology clinicians and geneticists is essential for correctly diagnosing and treating these patients. The American College of Medical Genetics and Genomics (ACMG) recommends the study of 59 genes related to phenotypic manifestations of cardiomyopathies. ...
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