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Updated: Feb 17, 2026

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins
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A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure

Christina Y Hung1,2, Barbara Volkmar3, James D Baker4

  • 1Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.

Plos One
|December 12, 2017
PubMed

Insights

Defects in CENPT, a kinetochore protein, cause primordial growth failure by disrupting cell division and chromosome segregation. This study identifies CENPT as a novel disease gene for severe growth disorders.

Area of Science:

  • Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Primordial growth failure is linked to cell division defects.
  • Centrosome and centriole proteins are known disease genes, but kinetochore proteins are less understood.
  • Kinetochores mediate spindle-chromosome interactions crucial for cell division.

Purpose of the Study:

  • Identify novel genes involved in primordial growth failure.
  • Investigate the role of kinetochore proteins in growth disorders.
  • Elucidate the molecular mechanisms linking CENPT mutations to severe growth failure.

Main Methods:

  • Genetic analysis of a consanguineous family with primordial growth failure.
  • Molecular and cellular studies in affected human cell lines.
  • Zebrafish knockdown model (Cenpt) to study in vivo effects.

Main Results:

  • A novel disease gene, CENPT (constitutive inner kinetochore member), was identified.
  • Mutations in CENPT cause severe growth failure.
  • Cellular studies revealed abnormal cell division, micronuclei, and polyploidy due to irregular chromosome segregation.
  • Zebrafish model recapitulated these cellular defects.

Conclusions:

  • Kinetochore function, specifically CENPT, is critical for overall body growth.
  • Disruptions in kinetochore assembly and function lead to severe growth disorders.
  • This study provides new insights into the cellular basis of primordial growth failure.

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