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Autosomal recessive primary microcephalies (MCPH).

Angela M Kaindl1

  • 1Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Germany.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|May 1, 2014
PubMed
Summary
This summary is machine-generated.

Autosomal recessive primary microcephaly (MCPH) is a brain disorder causing reduced head size and intellectual deficit. This review summarizes the genetic causes identified for MCPH types 1 through 12.

Keywords:
ASPMCASC5CDK5RAP2CDK6CENPJCEP135CEP152Intellectual disabilityMCPHMCPH1MicrocephalyPHC1STILWDR62ZNF335

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Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder.
  • MCPH is characterized by a significantly smaller brain volume despite normal brain structure.
  • Affected individuals typically present with intellectual disability.

Purpose of the Study:

  • To provide a comprehensive overview of the known genetic causes of MCPH.
  • To consolidate information on MCPH types 1-12.
  • To aid researchers and clinicians in understanding the genetic heterogeneity of MCPH.

Main Methods:

  • Literature review of genetic studies on MCPH.
  • Compilation of identified genes and mutations associated with MCPH subtypes.
  • Summary of genotype-phenotype correlations where available.

Main Results:

  • MCPH is genetically heterogeneous, with at least 12 distinct types identified to date.
  • Mutations in various genes involved in cell division, DNA repair, and brain development underlie different MCPH types.
  • Specific genes have been linked to particular MCPH classifications (MCPH1-MCPH12).

Conclusions:

  • The genetic basis of MCPH is diverse, involving multiple genes crucial for brain development.
  • Understanding the genetic landscape of MCPH is essential for accurate diagnosis and potential therapeutic strategies.
  • Further research into the function of MCPH-associated genes may reveal novel insights into brain size regulation.