Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences
Jinkyeong Kim, Seungjoon Lee, Eunkyu Hwang, Hwajin Jung, Chanhee Lee, Sang-Han Choi, Sooyeon Lee, Seongbin Kim, Heera Moon, Jisoo Kim, Gina Lee, Yong Gyu Kim, Soogeun Shin, Hyojin Kang, Se Jin Kim, Heon Yung Gee, Seong-Gi Kim, Eunee Lee, Eunjoon Kim · 2026
Read Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences by Jinkyeong Kim, Seungjoon Lee, Eunkyu Hwang, Hwajin Jung, Chanhee Lee, Sang-Han Choi, Sooyeon Lee, Seongbin Kim, Heera Moon, Jisoo Kim, Gina Lee, Yong Gyu Kim, Soogeun Shin, Hyojin Kang, Se Jin Kim, Heon Yung Gee, Seong-Gi Kim, Eunee Lee, Eunjoon Kim (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13569427.txt.
Description
Jinkyeong Kim and twenty co-authors engineered mice carrying two copies of a human autism-linked mutation to clarify the gene's role, in a 2026 study. The gene, CHD8, reshapes chromatin, and mice with one mutated copy show only mild traits, while a full knockout dies before birth. The team bred mice with the mutation on both copies using a mixed genetic background that kept them viable.
The double-mutant mice showed stronger autism-related behaviors and larger brains than single-copy mice, along with reduced blood flow, altered brain rhythms, and weaker synaptic transmission. Sex differences also shifted: single-copy males were hit hardest, while double-mutant females showed pronounced traits. Gene activity changes pointed to synapses, RNA splicing, and mitochondria.
Catalog record
| CREATOR | Jinkyeong Kim, Seungjoon Lee, Eunkyu Hwang, Hwajin Jung, Chanhee Lee, Sang-Han Choi, Sooyeon Lee, Seongbin Kim, Heera Moon, Jisoo Kim, Gina Lee, Yong Gyu Kim, Soogeun Shin, Hyojin Kang, Se Jin Kim, Heon Yung Gee, Seong-Gi Kim, Eunee Lee, Eunjoon Kim |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 86 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |