GENETIC LANDSCAPE OF MICROCEPHALY: A COMPREHENSIVE REVIEW

Abstract

Microcephaly is a neurodevelopmental disorder characterized by a small brain size at birth, which can be caused by various genetic and environmental factors. The clinical presentation of microcephaly can vary widely depending on the underlying cause, severity, and associated comorbidities. In addition to a small head circumference, individuals with microcephaly may exhibit developmental delay, intellectual disability, seizures, motor impairments, and facial dimorphisms. Genetic Basis of Microcephaly: Advancements in genomic technologies, particularly next-generation sequencing, have revolutionized our understanding of the genetic landscape underlying microcephaly. Numerous genes implicated in microcephaly encode proteins involved in essential cellular processes, including centrosome function, spindle assembly, DNA replication and repair, and cell cycle regulation. Mutations in these genes disrupt neuroprogenitor cell division and differentiation, ultimately leading to reduced brain size. Diagnostic Modalities: Diagnosing microcephaly requires a thorough clinical assessment, including measurement of head circumference, neuroimaging studies, and genetic testing. While head circumference measurements serve as a screening tool, neuroimaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT) provide valuable insights into brain morphology and structural abnormalities. Genetic testing, including chromosomal microarray analysis and targeted gene sequencing, can identify causative mutations in individuals with suspected genetic forms of microcephaly. Conclusion Microcephaly is a complex neurodevelopmental disorder with diverse etiologies and clinical manifestations. Advances in genetics and neuroimaging have enhanced our understanding of its underlying pathogenesis and facilitated early diagnosis and intervention.