Molecular basis of autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (MCPH) is a genetically very heterogeneous disorder, mainly characterized by severe microcephaly at birth, mental retardation of variable extent in the absence of any additional significant neurological findings, malformations, or growth anomalies. So far, 14 different genes have been identified, which on a cellular level play an important role during cell division processes, regulation of the cell cycle, and in DNA damage responses. Furthermore, microcephaly may occur as part of a syndrome such as Seckel syndrome or microcephalic osteodysplastic primordial dwarfism type II (MOPD II).