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Mutations in CDK5RAP2 cause Seckel syndrome.

Gökhan Yigit1, Karen E Brown2, Hülya Kayserili3

  • 1Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.

Molecular Genetics & Genomic Medicine
|October 6, 2015
PubMed
Summary
This summary is machine-generated.

Novel mutations in the CDK5RAP2 gene cause Seckel syndrome, a rare genetic disorder. This research highlights the critical role of centrosomal proteins in the disease

Keywords:
CDK5RAP2CEP215Seckel syndromemicrocephalyprimordial dwarfism

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Area of Science:

  • Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Seckel syndrome is a rare, autosomal recessive disorder characterized by severe growth retardation, microcephaly, and intellectual disability.
  • CDK5RAP2 (CEP215) is a centrosomal protein crucial for cell division and has been linked to primary microcephaly.

Purpose of the Study:

  • To identify the genetic cause of Seckel syndrome in affected families.
  • To investigate the role of CDK5RAP2 mutations in Seckel syndrome pathogenesis.
  • To explore potential digenic inheritance patterns in Seckel syndrome.

Main Methods:

  • Genetic analysis of two consanguineous families with Seckel syndrome.
  • Identification and characterization of novel homozygous splice-site mutations in CDK5RAP2.
  • Functional studies assessing the impact of CDK5RAP2 loss on mitosis and centrosome organization.
  • Case study of a patient with potential digenic inheritance involving CDK5RAP2 and CEP152.

Main Results:

  • Identified novel homozygous splice-site mutations (c.383+1G>C and c.4005-9A>G) in CDK5RAP2 in two families with Seckel syndrome.
  • Established CDK5RAP2 as a novel disease-causing gene for Seckel syndrome.
  • Demonstrated that loss of CDK5RAP2 function leads to severe mitotic defects, abnormal spindle organization, and aberrant nuclear morphology.
  • Reported a case suggesting possible digenic inheritance of Seckel syndrome involving mutations in both CDK5RAP2 and CEP152.

Conclusions:

  • CDK5RAP2 is a newly identified gene responsible for Seckel syndrome.
  • Defects in centrosomal and mitotic proteins are central to Seckel syndrome pathogenesis.
  • Digenic inheritance involving CDK5RAP2 and CEP152 may contribute to Seckel syndrome severity.