Date of Award
Master of Science (MS)
Dr. Ranjit Vijayan
Dr. Wael Mohammed Osman
Neurodevelopmental disorders (NDDs) are a heterogenous group of disorders that affect children at any point of development and lead to mental and motor function deficits. Often, the underlying cause could be genetic and inherited. This study investigated possible genetic variations that could have led to these neurological abnormalities and other genetic disorders in an Emirati family. Whole exome sequencing (WES) was used to sequence the protein-coding regions of the genome to identify potential de novo and inherited variants that are associated with disorders in this family.
WES of DNA from the parents and ten children were performed. Several variants were identified in high-risk genes associated with autism and epilepsy. However, most of these have previously been classified as benign. Several potentially pathogenic inherited and de novo variants were also identified These include a homozygous deletion of HBA2 gene in some of the family members indicating potential thalassemia, the Protein S (PROS1) variant rs146366248 (AF= 0.0007675) associated with protein S deficiency and thrombophilia, Fc fragment of IgG receptor IA (FCGR1A) variant rs74315310 (AF= 0.004104) associated with familial deficiency of IGG receptor I and the de novo rs132630331 variant in Glycerol Kinase (GK) associated with glycerol kinase deficiency. NDDs have very complex aetiology and could also have been caused by chromosomal abnormalities and copy number variations, which cannot be detected with WES, as well as environmental factors. Hence, further study is required to confirm these findings and to extend it to genomic regions not covered in this study.
Abdelaziz Refaey, Asmaa Samir, "IDENTIFICATION OF INHERITED AND DE NOVO EXOMIC VARIATIONS IN AN EMIRATI FAMILY WITH NEURODEVELOPMENTAL DISORDERS" (2020). Biology Theses. 37.