Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

The human findings are based on only six known people with this condition, so how common each feature is remains uncertain. The families came from populations with frequent parental consanguinity, which may limit generalisability. No natural history study or post-mortem human brain data were available. Some mouse experiments used only males or only females, and the three-chamber social test was limited to females because of video recording problems. The paper reports genetic and mouse phenotype findings, not a therapy trial, so it cannot show that any treatment improves autism, communication, mobility, or behaviour. Mouse social, metabolic, brain, and gene-expression findings may not translate directly to human therapy. ER stress and mitochondrial fusion were assessed only as mRNA levels, not as protein or direct organelle function.

Funding was provided by the Emma Reid and Leslie Reid Scholarships and Fellowships Fund, the Biotechnology and Biological Sciences Research Council, and the Medical Research Council. The supplied text does not report author conflicts of interest.

Do not conclude that PDZD8 disruption is a common cause of autism. It was found in only six known people, and the mouse work did not test treatment.