Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome
Abstract
:1. Introduction
2. Materials and Methods
2.1. Clinical and Genetic Investigation
2.2. FMR1 Analysis
2.3. Karyotype
2.4. SNP-Array 850K
2.5. Exome Sequencing
Genetic Testing and Prioritization of Variants
2.6. Sanger Sequencing
2.7. In Silico Analysis and Protein Structure Modeling
3. Results
3.1. Proband Clinical Characteristics
3.2. Whole-Exome Sequencing Revealed a Mutation Responsible for Wiedemann–Steiner Syndrome
4. Discussion
4.1. Clinical Overlap between WSS and Other Syndromes
4.2. Limitations of the Study
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Mutated Chain | Mutation | ΔΔG | Interface | Deleterious |
---|---|---|---|---|
A | R1151G | 1.25 | Yes | Yes |
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di Bari, I.; Ceccarini, C.; Curcetti, M.; Cesarano, C.; Croce, A.-I.; Adipietro, I.; Gallicchio, M.G.; Palladino, G.P.; Patrizio, M.P.; Frisoli, B.; et al. Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome. Genes 2024, 15, 1155. https://doi.org/10.3390/genes15091155
di Bari I, Ceccarini C, Curcetti M, Cesarano C, Croce A-I, Adipietro I, Gallicchio MG, Palladino GP, Patrizio MP, Frisoli B, et al. Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome. Genes. 2024; 15(9):1155. https://doi.org/10.3390/genes15091155
Chicago/Turabian Styledi Bari, Ighli, Caterina Ceccarini, Maria Curcetti, Carla Cesarano, Anna-Irma Croce, Iolanda Adipietro, Maria Grazia Gallicchio, Grazia Pia Palladino, Maria Pia Patrizio, Benedetta Frisoli, and et al. 2024. "Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome" Genes 15, no. 9: 1155. https://doi.org/10.3390/genes15091155