Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease †
Abstract
:1. Introduction
2. Materials and Methods
2.1. Ethical Approval
2.2. Patients
2.3. Algorithm Used for Patients’ Analyses
2.4. Cytogenetic Analysis
2.5. Multiplex-Dependent Ligation Probe Amplification Analysis (MLPA)
2.6. Chromosomal Microarray Analysis (CMA)
2.7. Next Generation Sequencing (NGS) Analysis
3. Results and Discussion
4. Conclusions
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
References
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Imbalances | CCHD MCA | iCCHD | Suspected 22q11DS | Total |
---|---|---|---|---|
None | 18 | 60 | 27 | 105 |
Del 22q11 (3Mb) | 5 | 13 | 31 | 21 |
Del 22q11 (1.5Mb) | 1 | 2 | - | 3 |
Dup 22q11 (1.5Mb) | 1 | 1 | - | 2 |
Del 22q11.2 (TBX1) | - | 1 | - | 1 |
Total | 25 | 77 | 30 | 132 |
ACMG | Patients | Imbalances | Size (Mb) | OMIM # |
---|---|---|---|---|
Pathogenic | 14 | Del 1p36.33p36.23; Dup 7q35q36.31,2 | 7.10; 12.2 | 607,872 |
Del 2q24.2q31.1 | 13.73 | - | ||
Del 2q14.2q14.3 | 7 | - | ||
Del 5q22.23 | 0.02 | - | ||
Del 7q36.1q36.31 | 10.06 | - | ||
Dup 7q11.23 | 1.27 | 609,757 | ||
Del 8q21.11q21.32,4 | 11.19 | 614,230 | ||
Del 9q22.2q31.1 | 12 | - | ||
T131 | - | - | ||
Del 15q14 | 6.22 | 616,898 | ||
Del 16p12.2 | 0.57 | 136,570 | ||
T181 | - | - | ||
Dup Xp22.33 | 1.7 | - | ||
TX, T145 | - | - | ||
Likely Pathogenic | 2 | Del 3p21.31 | 4.1 | - |
Del 17q25.3 | 0.50 | - |
Gene | ACMG | Protein Change | Phenotype |
---|---|---|---|
SHH | Likely Pathogenic | p.His270Tyr1 | MCA |
MYH11 | Pathogenic | p.? 1,2 | MCA |
PTPN11 | Pathogenic | p.(Ala461Thr) | MCA3 |
FOXL2 | Likely Pathogenic | p.(Tyr215Cys) | MCA |
PTPN11 | Pathogenic | p.Asn308Asp | MCA |
EP300 | Pathogenic | p.(Gln2361Ter)1 | MCA4 |
PTPN11 | Pathogenic | p.(Asp61Asn) | MCA3 |
KAT6B | Pathogenic | p.(Thr1525IlefsTer25)1 | MCA5 |
MYBPC3 | Likely Pathogenic | p.(Arg726Cys) | MCA/iCHD 3 |
RAF1 | Pathogenic | p.(Ser257Leu) | iCHD3 |
MYH7 | Likely Pathogenic | p.(Asn224Ile)1 | iCHD3 |
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Delea, M.; Massara, L.S.; Espeche, L.D.; Bidondo, M.P.; Barbero, P.; Oliveri, J.; Brun, P.L.; Fabro, M.; Galain, M.; Fernández, C.S.; et al. Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease. Proceedings 2021, 76, 8. https://doi.org/10.3390/IECGE-07151
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun PL, Fabro M, Galain M, Fernández CS, et al. Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease. Proceedings. 2021; 76(1):8. https://doi.org/10.3390/IECGE-07151
Chicago/Turabian StyleDelea, Marisol, Lucía S. Massara, Lucía D. Espeche, María P. Bidondo, Pablo Barbero, Jaen Oliveri, Paloma L. Brun, Mónica Fabro, Micaela Galain, Cecilia S. Fernández, and et al. 2021. "Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease" Proceedings 76, no. 1: 8. https://doi.org/10.3390/IECGE-07151