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106 reviewsAbstractReceived 28 October 2024; Revised 11 August 2025;Accepted 18 August 2025Primary microcephaly, a rare congenital condition characterized byreduced brain size, occurs due to impaired neurogenesis duringbrain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENIntroductionTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly.As CETN3 has not been previously linked to microcephaly, weinvestigated its potential function in neurodevelopment in humanMicrocephaly is a relatively rare defect defined by occipital-frontal headpluripotent stem cell-derived cerebral organoids. We showed thatcircumference at least two standard deviations (SD) smaller than theCETN3-knockout (KO) organoids successfully recapitulated theaverage (Becerra-Solano et al, 2021), occurring in approximately onemicrocephaly phenotype of reduced size compared to the controlcase per several thousand births, and manifesting as either an isolatedorganoids. Through transcriptomic, histological, and protein anacondition or accompanied with other clinical features such as intellectuallyses, we found that CETN3 deficiency directly interferes withdisability, short stature, ataxia, and seizures (Karaer et al, 2022; Mumtazneuronal differentiation and reduces proliferative capacity in neuralet al, 2015). Known causes include prenatal infections (e.g., toxoplasstem/progenitor cells by impairing centrosome assembly requiredmosis or Zika virus), exposure to toxic chemicals, genetic abnormalities,in cell cycle progression, consequently activating apoptosis. Furand severe malnutrition. Based on the timing of onset, primarythermore, our data uncovered previously undocumented indirectmicrocephaly is a congenital condition, whereas secondary microeffects of CETN3 through interaction with RNA splicing machinerycephaly occurs postnatally, with affected individuals failing to exhibitinvolve
