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Primary microcephaly (MCPH) is neurological disorder. It exhibits genetic heterogeneity. The genes identified in MCPH are Microcephalin gene at MCPH1 locus, WDR62 at MCPH2, CDK5RAP2 gene at MCPH3 locus, CEP152 at MCPH4, ASPM at MCPH5 locus, CENPJ at MCPH6 locus and STIL/SIL at MCPH7 locus. The objective of this study was to identify families from Punjab and to perform homozygosity mapping and DNA sequencing for mutation detection. We reported c.3978G>A; p.W1326X mutation in ASPM gene of MCPH families from Punjab. This is the most prevalent gene investigated for mutations in Pakistan. The...