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BioMed Research International
Volume 2014 (2014), Article ID 547986, 13 pages
Review Article

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

1Institut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, QC, Canada H2W 1R7
2Faculté de Médecine, Université de Montréal, Montréal, QC, Canada H3C 3J7
3Division of Experimental Medicine, McGill University, Montréal, QC, Canada H3A 1A3

Received 16 July 2014; Revised 18 September 2014; Accepted 18 September 2014; Published 8 December 2014

Academic Editor: Saulius Butenas

Copyright © 2014 Marine Barbelanne and William Y. Tsang. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.