Autosomal recessive primary microcephalies (MCPH).
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous disease characterized by a pronounced reduction in volume of otherwise architectonical normal brains and intellectual deficit. Here, we summarize the genetic causes of MCPH types 1-12 known to date.
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Germany. Electronic address: angela.kaindl@charite.de.
Angela M
AM
Kaindl
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005808:Genes, Recessive; D006801:Humans; D008831:Microcephaly / Q000209:etiology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins
ASPM; CASC5; CDK5RAP2; CDK6; CENPJ; CEP135; CEP152; Intellectual disability; MCPH; MCPH1; Microcephaly; PHC1; STIL; WDR62; ZNF335