Whole Exome Sequencing Identifies Three Novel Mutations in the Gene From Saudi Families Leading to Primary Microcephaly.

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The (abnormal spindle-like, microcephaly-associated) gene is among the most frequently mutated MCPH gene.