Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.
2017The Journal of neuroscience : the official journal of the Society for Neuroscience
Lin A, Ching CRK, Vajdi A, Sun D, Jonas RK +9 more
Plain English
This study examined how different copies of genes in the 22q11.2 region of the genome affect brain structure in 143 people, including those with deletions or duplications of this genetic material. Researchers found that those with deletions had thicker cortices, while those with duplications had larger brain volume and surface area but thinner cortices. Understanding these differences is important because they highlight how genetic variations can lead to distinct brain development patterns, which may help explain risks for conditions like schizophrenia and autism.
Who this helps: This benefits patients with neurodevelopmental disorders and their healthcare providers.