OMIA:002658-9541 : Macrocephaly, CHD8-related in Macaca fascicularis (crab-eating macaque)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Li et al. (2023): "Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) lead [in humans] to autism symptoms and macrocephaly by a haploinsufficiency mechanism. ... we found that CRISPR/Cas9-mediated CHD8 mutations in the embryos of cynomolgus monkeys led to increased gliogenesis to cause macrocephaly in cynomolgus monkeys. ... Our findings suggest that gliogenesis is critical for brain size in primates and that abnormal gliogenesis may contribute to ASD."
This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHD8||chromodomain helicase DNA binding protein 8||Macaca fascicularis||7||NC_052261.1 (80501105..80433474)||CHD8||Homologene, Ensembl , NCBI gene|
Cite this entry
|2023||Li, B., Zhao, H., Tu, Z., Yang, W., Han, R., Wang, L., Luo, X., Pan, M., Chen, X., Zhang, J., Xu, H., Guo, X., Yan, S., Yin, P., Zhao, Z., Liu, J., Luo, Y., Li, Y., Yang, Z., Zhang, B., Tan, Z., Xu, H., Jiang, T., Jiang, Y.H., Li, S., Zhang, Y.Q., Li, X.J. :|
|CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate. Cell Discov 9:27, 2023. Pubmed reference: 36878905. DOI: 10.1038/s41421-023-00525-3.|
- Created by Imke Tammen2 on 26 Mar 2023
- Changed by Imke Tammen2 on 26 Mar 2023