Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy
Abstract
1. Introduction
2. Case Presentation
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Appendix A
Physical Position (hg19) | Mutation Site | Amino Acid Change | Zygosity | MAF/TW | ClinVar | HGMD | SIFT/Polyphen-2 | SpliceAI |
---|---|---|---|---|---|---|---|---|
17:80755680 | c.817+2T>C | - | het | 8.068E-6/3.3E-4 | NA | NA | ./. | DG 0.95, DL 0.99 |
17:80828121 | c.1340C>T | p.Ala447Val | het | 5.802E-05/NA | Likely Pathogenic | NA | D/P | - |
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Patient 1 | Patient 2 | |
---|---|---|
Gender, age | Female, 36 m (deceased, related to recurrent respiratory infection) | Female, 33 m |
Age of seizure onset | 12 m | 18 m |
Consanguinity | no | no |
Perinatal history | unremarkable | unremarkable |
Epilepsy | yes, GTS | yes, focal to GTS |
Hypotonia | yes | yes |
Swallowing | poor; NG feeding until 3 y | can eat solid food |
Speech | ||
Skeletal involvement | scoliosis | no |
Others | no | thrombocytopenia, accessory spleen |
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Chen, C.-L.; Lee, C.-N.; Chien, Y.-H.; Hwu, W.-L.; Chang, T.-M.; Lee, N.-C. Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. Children 2021, 8, 1140. https://doi.org/10.3390/children8121140
Chen C-L, Lee C-N, Chien Y-H, Hwu W-L, Chang T-M, Lee N-C. Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. Children. 2021; 8(12):1140. https://doi.org/10.3390/children8121140
Chicago/Turabian StyleChen, Chih-Ling, Chien-Nan Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, and Ni-Chung Lee. 2021. "Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy" Children 8, no. 12: 1140. https://doi.org/10.3390/children8121140
APA StyleChen, C.-L., Lee, C.-N., Chien, Y.-H., Hwu, W.-L., Chang, T.-M., & Lee, N.-C. (2021). Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. Children, 8(12), 1140. https://doi.org/10.3390/children8121140