Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants
Abstract
:1. Introduction
2. Results
2.1. Clinical Presentation and WES Findings
2.2. In Silico Analysis
3. Discussion
4. Materials and Methods
4.1. Whole-Exome Sequencing (WES)
4.2. In Silico Analysis Tools
4.2.1. Variant Prioritization
4.2.2. Residue Conservation Analysis
4.2.3. Protein Physical Properties, Stability, and Interaction Assessment
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gene | cDNA_Change | Protein_Change | Cardiac Phenotype | Myopathy | Reference |
---|---|---|---|---|---|
SPEG | c.1071_1074dup; c.4399C>T | Lys359Valfs*35; Arg1467* | Reduced myocardial contraction | Present | [23] |
SPEG | c.2183delT; c.8962_8963insCGGG GCGAACGTTCGTG GCCAAGAT | Leu728Argfs*82; Val2997Glyfs*52 | Sinus tachycardia | Present | [32] |
SPEG | c.2915_2916delCCinsA; c.8270G>T | Ala972Aspfs*79; Gly2757Val | DCM; Mitral insufficiency | Present | [21] |
SPEG | c.3709_3715 + 29del36; c.4276C>T | Thr1237Serfs*46; Arg1426* | DCM | Present | [21] |
SPEG | c. 5038G>A | Glu1680Lys | DCM | Absent | [25] |
SPEG | c.6697C>T | Gln2233* | NA | Present | [21] |
SPEG | c.7119C>A | Tyr2373* | LVNC/enlarged atria | Present | [26] |
SPEG | c.7408C>A; c.8059C>A | Arg2470Ser; Pro2687Thr | DCM-LVNC | Absent | Present study |
SPEG | c.8710A>G | Thr2904Ala | DCM | Present | [22] |
SPEG | c.9028_9030delGAG | Glu3010del | DCM | Absent | [24] |
SPEG | c.9185_9187delTGG | Val3062del | DCM/Severe mitral valve insufficiency | Present | [32] |
SPEG | c.9586C>T | Arg3196* | Fetal bradycardia, DCM, Mild mitral insufficiency | Mild | [33] |
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Jaouadi, H.; El Louali, F.; Wanert, C.; Cano, A.; Ovaert, C.; Zaffran, S. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants. Int. J. Mol. Sci. 2022, 23, 5205. https://doi.org/10.3390/ijms23095205
Jaouadi H, El Louali F, Wanert C, Cano A, Ovaert C, Zaffran S. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants. International Journal of Molecular Sciences. 2022; 23(9):5205. https://doi.org/10.3390/ijms23095205
Chicago/Turabian StyleJaouadi, Hager, Fedoua El Louali, Chloé Wanert, Aline Cano, Caroline Ovaert, and Stéphane Zaffran. 2022. "Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants" International Journal of Molecular Sciences 23, no. 9: 5205. https://doi.org/10.3390/ijms23095205