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Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 Variants.

Nanako Hamada1, Koki Ichihashi2, Tohru Matsuki3

  • 1Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai 480-0392, Japan.

Cells
|July 13, 2026
PubMed
Summary

Centrosomal protein 152 (CEP152) dysfunction causes Seckel syndrome, impacting cell division. This study reveals CEP152 variants lead to multi-organ issues, including impaired sperm development and anemia, beyond brain defects.

Keywords:
CEP152Seckel syndromemacrocytic anemiamouse modelspathogenic variantstestis development

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Area of Science:

  • Genetics and Molecular Biology
  • Developmental Biology
  • Cell Biology

Background:

  • Centrosomal protein 152 (CEP152) is crucial for centriole function and cell division.
  • Pathogenic CEP152 variants cause Seckel syndrome (SCKL), a disorder with microcephalic primordial dwarfism.
  • The multi-organ effects of CEP152 dysfunction in SCKL are not fully understood.

Purpose of the Study:

  • To investigate the extra-neuronal phenotypes associated with patient-derived CEP152 variants in mouse models.
  • To characterize the impact of CEP152 dysfunction on spermatogenesis, hematopoiesis, and glial development.

Main Methods:

  • Utilized two mouse models with patient-derived CEP152 variants (Cep152W105*/K897* and Cep152Q32P/Q32P).
  • Systematically analyzed extra-neuronal tissues for developmental abnormalities.
  • Assessed spermatogenesis, hematological parameters, and oligodendrocyte markers (Opalin, Olig2).

Main Results:

  • Identified impaired spermatogenesis with defective mitosis and increased apoptosis in spermatogonia.
  • Observed hematological abnormalities consistent with macrocytic anemia.
  • Found reduced Opalin expression and fewer Olig2-positive oligodendrocytes, indicating glial deficits.

Conclusions:

  • CEP152 dysfunction contributes to multi-systemic abnormalities in Seckel syndrome.
  • CEP152 is vital for normal spermatogenesis, hematopoiesis, and glial development.
  • This study provides an integrated view of CEP152's role in both neuronal and extra-neuronal development.