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

Table 6 MCPH1, WDR62, CDK5RAP2, and CENPJ mutations in MCPH families from Pakistan

Gene Symbol	Mutation	Language Group	State of Mutation	Present in No. of families from Pakistan	Reference
MCPH1	74C-G	Northern Pakistani	Homozygous	Two	[25]
WDR62	3232G-A	Sindhi	Homozygous	One	[27]
	246T-A	Kashmiri	Homozygous	Two	[43, 44]
CDK5RAP2	IVS26-15A-G	Northern Pakistani	Homozygous	One	[44]
	17delC	Northern Pakistani	Homozygous	Two	[44]
CENPJ	3243delTCAG	Pushto	Homozygous	One	[88]

ISSN: 1750-1172