Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Zhu Wen, Tian-Lin Cheng, Gai-Zhi Li and 5 others
PMID 28785396WHAT IT FOUND
Three MECP2 mutations were found among 120 Chinese children with autism.
When overexpressed in lab neurons, P152L and P376S did not alter dendrite growth, and P376S appeared to increase axon length. This is a genetic finding, not evidence for a therapy.
Key findings
01Whole-exome sequencing of 120 children with autism identified MECP2 mutations in three probands.
02Sanger sequencing showed p.P152L and p.R294X were de novo, while p.P376S was inherited from the mother.
03In cultured neurons, overexpression of normal MeCP2 inhibited dendritic growth, overexpression of P152L and P376S had no effect on dendritic growth, and overexpression of P376S appeared to increase axonal length.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
Only three children among 120 studied carried MECP2 mutations, and the paper does not report a comparison group, so it cannot show how common these mutations are or prove they caused the autism. The functional tests used overexpression in mouse cortical neurons and HEK-293 cells, not the patients' own neurons or an animal model, so they show a possible protein effect but not a clinical mechanism. The study excluded patients with severe somatic disorders, epilepsy, or family history of psychosis, and the participants were Han Chinese children, so the findings may not apply to all children with autism. The three mutation carriers also carried variants in other autism candidate genes, so the contribution of any single MECP2 mutation cannot be separated. No treatment outcome, follow-up, or therapy measure is reported, so the paper cannot tell therapists what to do differently.
Declared interests
The supplied text does not include an author conflict-of-interest or funding statement. The metadata lists research support from non-U.S. government sources.
The easy way to misread this
Do not read the MECP2 mutations as proof that they caused autism or as a target for therapy. Only three children among 120 studied carried them, the functional evidence came from overexpression in lab cells, and no treatment outcome was measured.