Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
Lin Wang, Yi Zhang, Kuokuo Li and 14 others
PMID 33023636WHAT IT FOUND
Across 1799 autism families, X-linked variants that stop genes were more common in affected boys (55 of 1571) than unaffected brothers (15 of 847), especially in genes active in the brain.
Autosomal variants that stop genes were not more common overall.
Key findings
01In 1799 families, X-linked variants that stop genes were more common in affected boys (55 of 1571) than in unaffected brothers (15 of 847).
02After restricting to genes active in the brain and constrained against loss of function, probands had more autosomal variants that stop genes (10 vs 2) and more X-linked variants that stop genes (23 vs 4) than siblings.
03The analysis prioritized 21 recessive inherited genes, and variants in them were found in 26 of 1799 patients (1.4%).
STILL TO COME
How it was doneWhat they found
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What it does not show
The study analysed inherited genetic variants and brain expression patterns; it did not test a therapy or clinical outcome. The authors prioritized genes only where variants that stop genes differed; they may have missed candidate genes involving other harmful variants. The 21 candidate genes were not proven and need confirmation in additional studies and functional validation. The researchers could not re-examine patients with these variants to describe detailed clinical features in depth. Differences between this study and other cohorts may partly reflect technical differences.
Declared interests
Funding came from the National Natural Science Foundation of China and several Hunan Province, Guangdong, CAST, and Central South University programs. No author competing interests are listed in the supplied text.
The easy way to misread this
Do not read the 21 candidate genes as proven causes of autism or as tests to order. The paper says these variants need confirmation in additional studies and functional validation, and it did not test therapy or patient outcomes.