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Seeing the Forest for the Trees: Dissecting Causal Mechanisms for Specific Conditions Associated With Shared Genetic Risk by Marina V. Yasvoina; Deepak P. Srivastava is a Neuroscience article available to read on EtoBox.

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Schizophrenia (SCZ) is a chronic and heterogeneous neuropsychiatric condition affecting the psychological, social, and cognitive functioning of an individual. The underlying etiology of SCZ involves a large genetic component with both common variants of low penetrance and copy number variants (CNVs) of high penetrance being implicated (1). Although CNVs confer considerable genetic risk for SCZ, they alone cannot fully account for the increased risk for SCZ, and a growing body of evidence indicates a combination of disorder-related genetic background and CNVs underlying the emergence of this condition (1-3). Reciprocal rearrangements in the 16p11.2 chromosome region have been linked with both neurodevelopmental and psychiatric conditions (4). Deletions at the 16p11.2 chromosome region have been associated with autism spectrum conditions, intellectual disability, attention-deficit/hyperactivity disorder, epilepsy, and abnormal head size. Conversely, duplications of this region also have been associated with autism spectrum conditions, intellectual disability, epilepsy, and abnormal head size, but are also linked with increased likelihood for SCZ (2,4). Thus, an intriguing question th

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Author

Marina V. Yasvoina; Deepak P. Srivastava

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Neuroscience (Life Sciences)