Molecular genetics of human primary microcephaly: an overview

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrea...

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Bibliographic Details
Published in:	BMC medical genomics Vol. 8 Suppl 1; no. S1; p. S4
Main Authors:	Faheem, Muhammad, Naseer, Muhammad Imran, Rasool, Mahmood, Chaudhary, Adeel G, Kumosani, Taha A, Ilyas, Asad Muhammad, Pushparaj, Peter, Ahmed, Farid, Algahtani, Hussain A, Al-Qahtani, Mohammad H, Saleh Jamal, Hasan
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 15-01-2015 BioMed Central
Subjects:	Animals Humans Microcephaly - epidemiology Microcephaly - genetics Mutation Review Saudi Arabia - epidemiology Saudi Arabia
Online Access:	Get full text
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Summary:	Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrease in size. MCPH is a neurogenic mitotic disorder, though affected patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6. It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. Additional findings have further elucidated the microcephaly aetiology and pathophysiology, which has informed the clinical management of families suffering from MCPH. The provision of molecular diagnosis and genetic counselling may help to decrease the frequency of this disorder.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Conference-1 ObjectType-Feature-3 content type line 23 SourceType-Conference Papers & Proceedings-2 ObjectType-Review-1
ISSN:	1755-8794 1755-8794
DOI:	10.1186/1755-8794-8-s1-s4