cell cycle regulators

What Neonatal Disorders are Linked to Cell Cycle Dysregulation?

Several disorders are directly linked to the misregulation of the cell cycle:
Microcephaly: This condition, characterized by a smaller head and brain size, can result from mutations in genes that control the cell cycle. For example, defects in CDK5RAP2 can lead to impaired neurogenesis.
Cancer: Neonates can be born with cancers such as neuroblastoma and retinoblastoma, often due to inherited mutations in cell cycle regulating genes like Rb and MYCN.
Congenital Heart Defects: Proper cell cycle regulation is essential for heart development. Mutations in genes like TBX5, which influence cell proliferation, can lead to conditions such as Holt-Oram syndrome.

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