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Article

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Human genetics - 1 Aug 2014

Mirzaa Ghayda M, Vitre Benjamin, Carpenter Gillian, Abramowicz Iga, Gleeson Joseph G, Paciorkowski Alex R, Cleveland Don W, Dobyns William B, O'Driscoll Mark

Abstract excerpt

Defects in centrosome, centrosomal-associated and spindle-associated proteins are the most frequent cause of primary microcephaly (PM) and microcephalic primordial dwarfism (MPD) syndromes in humans. Mitotic progression and segregation defects, microtubule spindle abnormalities and impaired DNA damage-induced G2-M cell cycle checkpoint proficiency have been documented in cell lines from these patients. This...

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Identifiers

PMID: 24748105
DOI: 10.1007/s00439-014-1443-3
PMCID: PMC4415612

Genes

CENPE
PCNT

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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