Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein
Abstract
:1. CASK-Related Disorders, X-Linked Neurological Disorders
2. Protein Structure and Protein Interaction of CASK
3. Genetics of CASK-Related Disorders
4. Phenotypes and Functional Domains of CASK
5. Unresolved Questions on the Pathophysiology of CASK-Related Disorders
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Mutations | Pathogenic | Likely Pathogenic | Benign 1 | Uncertain Significance 2 |
---|---|---|---|---|
Frameshift | 30 | 6 | 0 | 1 |
Missense * | 11 | 20 | 14 | 180 |
Nonsense | 40 | 3 | 0 | 0 |
Phenotypes | Gender | Severe | Mild/No | NA 1 |
---|---|---|---|---|
Intellectual Disability | Male | 58 | 4 | 3 |
Female | 124 | 5 | 3 | |
Microcephaly/MICPCH | Male | 35 | 11 | 19 |
Female | 107 | 15 | 10 | |
Epilepsy * | Male | 33 | 28 | 4 |
Female | 44 | 78 | 10 |
Phenotypes | Mutations | Male | Female | Total |
---|---|---|---|---|
Intellectual disability ** | Nonsense 1 | 24 | 109 | 133 |
Missense | 34 | 15 | 49 | |
Microcephaly/MICPCH ** | Nonsense 1 | 19 | 98 | 117 |
Missense | 14 | 9 | 23 | |
Epileptic seizures ** | Nonsense 1 | 16 | 40 | 56 |
Missense | 17 | 2 | 19 | |
Ophthalmological anomalies * | Nonsense 1 | 16 | 38 | 64 |
Missense | 11 | 7 | 18 |
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Mori, T.; Zhou, M.; Tabuchi, K. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. Genes 2023, 14, 1656. https://doi.org/10.3390/genes14081656
Mori T, Zhou M, Tabuchi K. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. Genes. 2023; 14(8):1656. https://doi.org/10.3390/genes14081656
Chicago/Turabian StyleMori, Takuma, Mengyun Zhou, and Katsuhiko Tabuchi. 2023. "Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein" Genes 14, no. 8: 1656. https://doi.org/10.3390/genes14081656