Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Genes Studied | ||||||
---|---|---|---|---|---|---|
AARS2 | ABCC9 | ACAD9 | ACADVL | ACTA1 | ACTC1 | ACTN2 |
AGK | AGL | AGPAT2 | AKAP9 | ALMS1 | ANK2 | ANK3 |
ANKRD1 | ATPAF2 | BAG3 | BRAF | BSCL2 | CACNA1C | CACNA1D |
CACNA2D1 | CACNB2 | CALM1 | CALM2 | CALR3 | CAPN3 | CASQ2 |
CAV3 | CAVIN4 | COQ2 | COX15 | COX6B1 | CRYAB | CSRP3 |
CTNNA3 | DES | DLD | DMD | DNAJC19 | DOLK | DSC2 |
DSG2 | DSP | DTNA | EMD | EYA4 | FAH | FHL1 |
FHL2 | FHOD3 | FKRP | FKTN | FLNC | FOXD4 | GAA |
GATA4 | GATA6 | GATAD1 | GFM1 | GJA1 | GJA5 | GLA |
GLB1 | GNPTAB | GPD1L | GUSB | HCN4 | HFE | HRAS |
JPH2 | JUP | KCNA5 | KCND3 | KCNE1 | KCNE2 | KCNE3 |
KCNE5 | KCNH2 | KCNJ2 | KCNJ5 | KCNJ8 | KCNK3 | KCNQ1 |
KLF10 | KRAS | LAMA2 | LAMA4 | LAMP2 | LDB3 | LDLR |
LIAS | LMNA | MAP2K1 | MAP2K2 | MIB1 | MLYCD | MRPL3 |
MRPS22 | MTO1 | MYBPC3 | MYH11 | MYH6 | MYH7 | MYL2 |
MYL3 | MYLK2 | MYOT | MYOZ2 | MYPN | NEBL | NEXN |
NKX2-5 | NOTCH1 | NPPA | NRAS | OBSL1 | PDHA1 | PDLIM3 |
PHKA1 | PITX2 | PKP2 | PLN | PMM2 | PRDM16 | PRKAG2 |
PSEN1 | PSEN2 | PTPN11 | RAF1 | RANGRF | RBM20 | RYR2 |
SCN10A | SCN1B | SCN2B | SCN3B | SCN4B | SCN5A | SGCA |
SGCB | SGCD | SHOC2 | SLC22A5 | SLC25A4 | SLMAP | SNTA1 |
SOS1 | SPRED1 | SRY | SURF1 | TAZ | TBX20 | TBX5 |
TCAP | TGFB3 | TMEM43 | TMEM70 | TNNC1 | TNNI3 | TNNT2 |
TPM1 | TRDN | TRIM63 | TRPM4 | TSFM | TTN | TTR |
TXNRD2 | VCL |
Study | CNVs | CM | HCM | DCM | ARVC | LVNC | RCM |
---|---|---|---|---|---|---|---|
+ | + | 95 | 20 | 50 | 17 | 12 | 1 |
+ | − | 3537 | 2203 | 957 | 279 | 195 | 26 |
− | − | 8015 | 4576 | 2543 | 606 | 461 | 42 |
Patients | studied | 11,647 | 6799 | 2550 | 902 | 668 | 69 |
%CNVs+ | (total) | 0.82 | 0.29 | 1.41 | 1.88 | 1.80 | 1.45 |
%CNVs+ | (study+) | 2.62 | 0.90 | 4.97 | 5.74 | 5.80 | 3.70 |
Gene | CM | HCM | DCM | ARVC | LVNC | RCM |
---|---|---|---|---|---|---|
DMD | 34 | 31 | 2 | 3 | ||
PKP2 | 14 | 2 | 1 | 12 | ||
MYBPC3 | 11 | 11 | 1 | |||
DSP | 4 | 2 | 1 | 1 | ||
FLNC | 4 | 2 | 2 | |||
LAMP2 | 4 | 1 | 3 | |||
LMNA | 4 | 4 | ||||
TTN | 4 | 4 | 2 | |||
FHOD3 | 3 | 3 | ||||
PLN | 2 | 1 | 1 | |||
PRDM16 | 2 | 2 | ||||
RYR2 | 2 | 2 | ||||
DES | 1 | 1 | ||||
FHL1 | 1 | 1 | ||||
MYH7 | 1 | 1 | ||||
TNX20 | 1 | 1 | ||||
TBX5 | 1 | 1 | ||||
TXNRD2 | 1 | 1 |
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de Uña-Iglesias, D.; Ochoa, J.P.; Monserrat, L.; Barriales-Villa, R. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies. Genes 2024, 15, 774. https://doi.org/10.3390/genes15060774
de Uña-Iglesias D, Ochoa JP, Monserrat L, Barriales-Villa R. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies. Genes. 2024; 15(6):774. https://doi.org/10.3390/genes15060774
Chicago/Turabian Stylede Uña-Iglesias, David, Juan Pablo Ochoa, Lorenzo Monserrat, and Roberto Barriales-Villa. 2024. "Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies" Genes 15, no. 6: 774. https://doi.org/10.3390/genes15060774
APA Stylede Uña-Iglesias, D., Ochoa, J. P., Monserrat, L., & Barriales-Villa, R. (2024). Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies. Genes, 15(6), 774. https://doi.org/10.3390/genes15060774