OMIA:002658-9541 : Macrocephaly, CHD8-related in Macaca fascicularis (crab-eating macaque)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610528 (gene) , 615032 (trait)

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).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CHD8 chromodomain helicase DNA binding protein 8 Macaca fascicularis 7 NC_088381.1 (89131867..89063877) CHD8 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002658-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • Created by Imke Tammen2 on 26 Mar 2023
  • Changed by Imke Tammen2 on 26 Mar 2023
  • Changed by Imke Tammen2 on 18 Dec 2023