Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations
Abstract
:1. Introduction
2. Diagnostic Assessment—Materials and Methods
2.1. DNA Samples Preparation
2.2. Exome Sequencing
2.3. Filtering and Variant Prioritization
3. Results
3.1. Case Description
3.2. Audiological Evaluation
3.3. Follow-up and Neurodevelopmental Outcomes
3.4. Genetic
4. Discussion
Limitations
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
VDWS | Von der Woude syndrome |
PPS | Popliteal Pterygium Syndrome |
NSCP | Non-syndromic cleft palate |
eQTL | expression quantitative trait locus |
GWAS | Genome-wide association study |
aEEG | Amplitude electroencephalogram |
AIS | ischaemic perinatal arterial stroke |
PPAR-γ | Peroxisome proliferator-activated receptor gamma |
IRF6 | Interferon Regulatory Factor 6 |
aCGH | Array comparative genomic hybridization |
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Perilli, L.; Negro, S.; Carbone, S.; Minerva, M.; Curcio, M.R.; Lotti, F.; Mencarelli, M.A.; Ariani, F.; Renieri, A.; Tomasini, B.; et al. Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations. Genes 2025, 16, 271. https://doi.org/10.3390/genes16030271
Perilli L, Negro S, Carbone S, Minerva M, Curcio MR, Lotti F, Mencarelli MA, Ariani F, Renieri A, Tomasini B, et al. Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations. Genes. 2025; 16(3):271. https://doi.org/10.3390/genes16030271
Chicago/Turabian StylePerilli, Lorenzo, Simona Negro, Samanta Carbone, Michele Minerva, Maria Rosaria Curcio, Federica Lotti, Maria Antonietta Mencarelli, Francesca Ariani, Alessandra Renieri, Barbara Tomasini, and et al. 2025. "Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations" Genes 16, no. 3: 271. https://doi.org/10.3390/genes16030271
APA StylePerilli, L., Negro, S., Carbone, S., Minerva, M., Curcio, M. R., Lotti, F., Mencarelli, M. A., Ariani, F., Renieri, A., Tomasini, B., & Grosso, S. (2025). Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations. Genes, 16(3), 271. https://doi.org/10.3390/genes16030271