CENPE – Autosomal Recessive Primary Microcephaly

Autosomal recessive primary microcephaly (AR MCPH) is characterized by reduced head circumference and a varying degree of intellectual disability. CENPE, encoding the centrosome-associated motor protein E, has been reported among 15 MCPH genes identified in consanguineous families presenting with AR MCPH (PMID:28674240). No CENPE-specific probands or variants were detailed in this study, and segregation data for affected relatives carrying CENPE variants are not available.

Given the absence of reported CENPE variants or segregation evidence and the lack of functional studies in the microcephaly context, the clinical validity of CENPE in AR MCPH remains limited. Additional case reports, variant-level data, and functional analyses in neural models are required to establish CENPE as a diagnostic marker. Key Take-home: CENPE is a candidate MCPH gene, but current evidence is insufficient for routine diagnostic or clinical use.

References

• Journal of genetics • 2017 • Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene. PMID:28674240

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