Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.

ABSTRACT:

Objective

To identify genetic variation involved in primary microcephaly.

Methods

In 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.

Results

Two 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 G

SUBMITTER: Naseer MI 

PROVIDER: S-EPMC8015564 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature