Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.
Kuokuo Li, Zhenghuan Fang, Guihu Zhao and 17 others
PMID 33970367WHAT IT FOUND
Rare mutations not inherited from parents were more common in people with autism, intellectual disability, epileptic encephalopathy, undiagnosed developmental disorders and schizophrenia.
The pattern was strongest in intellectual disability, epileptic encephalopathy and undiagnosed developmental disorders, weaker in autism and schizophrenia.
Key findings
01Rare mutations likely to affect protein function were more frequent in people with autism, undiagnosed developmental disorder, epileptic encephalopathy, intellectual disability and schizophrenia than in unaffected controls.
02The estimated contribution of these mutations to patients was 38.11% in intellectual disability, 34.40% in epileptic encephalopathy, 33.31% in undiagnosed developmental disorder, 10.98% in autism and 6.91% in schizophrenia.
03Genes carrying these mutations overlapped across disorders, especially between undiagnosed developmental disorder, intellectual disability and epileptic encephalopathy.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study combined mutation data from 37 published studies, so quality control was not uniform across cohorts. The authors used synonymous mutations to reduce differences between studies, but residual bias may remain. The number of participants differed greatly across disorders, which can affect detection of candidate genes. Many prioritised candidate genes lacked functional experiments. The paper reports genetic associations, not clinical outcomes or treatment response.
The easy way to misread this
Do not read the shared genes as proof that a mutation causes a specific clinical problem, or as a reason to change therapy. The study analysed published genetic data and did not test clinical symptoms, rehabilitation outcomes or treatment response.