• Muhammad I Naseer, Mahmood Rasool, Angham A Abdulkareem, Randa I Bassiouni, Hussein Algahtani, Adeel G Chaudhary, and Mohammad H Al-Qahtani.
• Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. E-mail: mimrannaseer@yahoo.com.
• Neurosciences. 2018 Oct 1; 23 (4): 347-350.

ObjectiveTo identify genetic variation involved in primary microcephaly.MethodsIn present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was conducted in King Abdulaziz University started from 2016 and the results presented in this manuscript are from one of the family.ResultsTwo novel missense variants (c.982G>A and c.1273T>A) were identified in heterozygous state in exon 8 of MCPH1 gene. The detected missense variants cause a tyrosine to asparagine substitution of residue 425 and a valine to isoleucine substitution at residue 310. MCPH1 gene encodes a DNA damage response protein. The encoded protein play a role in G2/M DNA damage checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. The respective mutation was ruled out in 100 control samples.ConclusionWe found novel compound heterozygous mutation in Saudi family that will help to build database for genetic mutations in population and pave way to devise strategies to tackle such disorders in future.

18 keywords...

hide…