Mustansiriyah University /College of Engineering | Iraq
This study investigates genome-wide copy number variations (CNVs) in five multiplex consanguineous families presenting a spectrum of neurodevelopmental disorders (NDDs), including intellectual disability, microcephaly, autism spectrum disorder, epilepsy, and complex neurological syndromes. Using the Cytoscan HD microarray platform, the analysis revealed pathogenic deletions, duplications, and regions of loss of heterozygosity that co-segregate with disease phenotypes. The study identifies several clinically significant CNVs—1q21.1 microduplication, 16p11.2 microduplication, Xp11.22 microduplication, 4p12 microdeletion, and Xq21.1 microdeletion—reported for the first time in affected Pakistani families. These CNVs likely disrupt gene dosage and contribute to the onset and progression of diverse neurodevelopmental manifestations. The findings highlight shared clinical and genetic etiologies across NDDs and underscore the importance of CNV profiling in uncovering rare, heterogeneous syndromic conditions. This research offers valuable insights for improved diagnosis, genetic counseling, and precision-medicine approaches in populations with high consanguinity.
Featured Publications:
Al-Haidari, S. R., & Al-Obaidi, A. R. (2025). Extensive investigation of hydrothermal flow and heat performance improvement in a 3D tube based on varying concavity dimple and corrugation turbulator configurations. Heat Transfer, 54(5), 3134–3162.