Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Table 2 A brief description of known MCPH loci/genes so far

Locus	Chromosome	Gene	Cellular location	Proposed Function	References
MCPH1	8p23	MCPH1 Microcephalin	Nucleus/Chromatin	DNA Damage repair, chromosome condensation	[39, 52, 58]
MCPH2	19q13.12- q13.2	WDR62	Nucleus, cetrosomal during mitosis	Not yet established, expression pattern resembles with ASPM	[21, 26, 27, 40]
MCPH3	9q33.2	CDK5RAP2	Centrosome/Midbody	Regulation of microtubule function/Centrosome maturation	[44, 62, 63]
MCPH4	15q15-q21	CEP152	Centrosome	Involved in centriol duplication	[41, 46]
MCPH5	1q31.3	ASPM	Pericentrosomal/Midbody	Orientaion of mitotic spindles during embryonic neurogenesis	[22, 67, 71, 79]
MCPH6	13q12.12	CENPJ	Centrosome/Midbody	Centriole length control/microtubule function	[44, 86, 87]
MCPH7	1p33	STIL	Pericentrosomal	Spindle organization/Cell cycle progression	[42, 96–100]

ISSN: 1750-1172