Neurology · Psychiatry ·
15q11.2 CNVs linked to modest, variable cerebellar volume differences
A normative-modeling study compared cerebellar anatomy in 120 carriers of 15q11.2 deletions, 149 carriers of duplications and 19,028 non-carriers. Both carrier groups had smaller cerebellar volumes on average, but effects were small and individual patterns varied.
- Both CNV groups had smaller cerebellar volumes on average.
- Group-level effects were small.
- Individual-level anatomical deviations varied among carriers.
Copy number variations (CNVs) at 15q11.2 are associated with neurodevelopmental and neuropsychiatric conditions, but their effects are incompletely penetrant and variable. Researchers used normative models trained on brain-anatomy data from more than 52,000 people aged 3–85 years to assess group-level and individual-level cerebellar differences. The analysis included 120 deletion carriers (mean age 64.95 years), 149 duplication carriers (mean age 64.31 years) and 19,028 non-carriers (mean age 64.31 years).
Group comparisons found significantly smaller total and regional cerebellar volumes in both deletion and duplication carriers than in non-carriers. The reported effects were small. Individual-level analyses showed that anatomical deviations were heterogeneous among carriers, rather than uniform across either CNV group.
The findings suggest modest, individualized associations between 15q11.2 CNVs and cerebellar morphology. They do not establish that these structural differences cause symptoms or predict outcomes for an individual carrier. The study describes anatomy, not a diagnostic or treatment strategy; its findings do not support a change in clinical management on their own.
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Molecular Psychiatry: Mapping cerebellar morphology in 15q11.2 CNV carriers using normative modeling ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.