Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2...

Area of Science:

• Neuroimaging
• Genetics
• Developmental Neuroscience

Background:

• Copy number variants (CNVs) in 1q21.1 and 15q11.2 are associated with brain differences.
• Distinguishing regional from global brain alterations in CNV carriers is crucial for interpretation.
• Intraindividual variability measures offer a method to isolate regional effects.

Purpose of the Study:

• To investigate regional brain differences in carriers of 1q21.1 distal and 15q11.2 BP1-BP2 CNVs.
• To determine if regional brain alterations exist independently of global brain size differences.
• To provide a more nuanced brain profile for these genetic variants.

Main Methods:

• Utilized magnetic resonance imaging (MRI) data from carriers of 1q21.1 distal deletion/duplication and 15q11.2 BP1-BP2 deletion/duplication, along with matched noncarriers.
• Calculated regional intra-deviation scores to assess deviations from global brain differences.
• Analyzed cortical surface area and cortical thickness in specific brain regions.

Main Results:

• 1q21.1 deletion carriers showed distinct regional differences in cortical surface area (e.g., medial visual cortex, prefrontal cortex).
• 15q11.2 deletion carriers exhibited altered cortical thickness in specific regions (e.g., medial visual cortex, auditory cortex, prefrontal cortex).
• Both deletion and duplication carriers demonstrated regional brain effects that diverged from global brain differences.

Conclusions:

• Evidence supports regional brain effects beyond global measures in 1q21.1 and 15q11.2 CNV carriers.
• Findings contribute to a refined understanding of brain profiles associated with these CNVs.
• This research may advance the comprehension of neurodevelopmental mechanisms influenced by these genetic variants.