Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
Abstract
:1. Introduction
2. Material and Methods
2.1. Participants
2.2. Clinical Assessment of Brain Structure and Activity
2.3. Traditional Genetic Testing
2.4. Sample Preparation and Whole-Genome Sequencing (WGS)
2.5. Quad Joint Whole-Genome Analysis
3. Results
3.1. Clinical Description
3.2. Genomic Findings
3.2.1. CMA and Karyotype Analysis
3.2.2. Quad WGS Analysis
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Cuk, M.; Unal, B.; Jandrica, N.; Hayes, C.P.; Walker, M.; Abraamyan, F.; Gornik, K.C.; Ghazani, A.A. Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. J. Pers. Med. 2024, 14, 901. https://doi.org/10.3390/jpm14090901
Cuk M, Unal B, Jandrica N, Hayes CP, Walker M, Abraamyan F, Gornik KC, Ghazani AA. Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine. 2024; 14(9):901. https://doi.org/10.3390/jpm14090901
Chicago/Turabian StyleCuk, Mario, Busra Unal, Nives Jandrica, Connor P. Hayes, McKenzie Walker, Feruza Abraamyan, Kristina Crkvenac Gornik, and Arezou A. Ghazani. 2024. "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis" Journal of Personalized Medicine 14, no. 9: 901. https://doi.org/10.3390/jpm14090901