Abstract
Neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASD) and intellectual disability (ID), are a large group of neuropsychiatric illnesses that occur during early brain development, resulting in a broad spectrum of syndromes affecting cognition, sociability, and sensory and motor functions. Despite progress in the discovery of various genetic risk factors thanks to the development of novel genomics technologies, the precise pathological mechanisms underlying the onset of NDDs remain elusive owing to the profound genetic and phenotypic heterogeneity of these conditions. Autism susceptibility candidate 2 (AUTS2) has emerged as a crucial gene associated with a wide range of neuropsychological disorders, such as ASD, ID, schizophrenia, and epilepsy. AUTS2 has been shown to be involved in multiple neurodevelopmental processes; in cell nuclei, it acts as a key transcriptional regulator in neurodevelopment, whereas in the cytoplasm, it participates in cerebral corticogenesis, including neuronal migration and neuritogenesis, through the control of cytoskeletal rearrangements. Postnatally, AUTS2 regulates the number of excitatory synapses to maintain the balance between excitation and inhibition in neural circuits. In this review, we summarize the knowledge regarding AUTS2, including its molecular and cellular functions in neurodevelopment, its genetics, and its role in behaviors.
Highlights
The disruption of brain development has been implicated in various psychiatric and neurological illnesses with neurodevelopmental origins
Over the last few decades, multiple mutations within the Autism susceptibility candidate 2 (AUTS2) locus have been identified in patients with Neurodevelopmental disorders (NDDs), identifying it as a causative factor for neurodevelopmental and psychological disorders such as autism spectrum disorders (ASD), intellectual disability (ID), attention-deficit hyperactivity disorder (ADHD), and schizophrenia
Accumulating evidence has revealed that AUTS2 is a key regulator involved in a wide range of neurodevelopmental processes, from prenatal neurogenesis to the assembly of neural circuits in mature brains
Summary
The disruption of brain development has been implicated in various psychiatric and neurological illnesses with neurodevelopmental origins. Various gene gewas initially reported as an ASD gene disrupted by de novo balanced chromosomal nomic structural variants, such as risk deletions, duplications, inversions, and translocations, monozygotic twins with ASD in 2002. AUTS2 and mutations often display as ID, schizophrenia, ADHD, language disorder, epilepsy, depression, and drug depenpathological conditions including developmental delay, microcephaly, short stature, and dence [12,13,14,15,16,17,18,19,20,21]. Review, we summarize the knowledgeand of the andofcellular functions of AUTS2 in neurodevelopment and the involvement of this gene in NDDs
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