Publications by authors named "Hadeel A AlRukban"
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Liena Elbaghir Omer Elsayed Norah Ayed AlHarbi Ashwaq Mohammed Alqarni Huda Hussein Elwasila Eltayeb Noura Mostafa Mohamed Mostafa Hadeel Abdollah Alrukban
Hum Genomics
October 2024
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Liena Elbaghir Omer Elsayed Norah Ayed AlHarbi Ashwaq Mohammed Alqarni Huda Hussein Elwasila Eltayeb Noura Mostafa Mohamed Mostafa Hadeel Abdollah Alrukban
Hum Genomics
September 2024
Article Synopsis
- Chromosome 16p11.2 deletions and duplications are significant genetic variations linked to a range of clinical outcomes, including developmental delays and autism spectrum disorders, with phenotypic differences among individuals.
- This study identified a de novo recurrent deletion in a Saudi girl, leading to severe cognitive and motor disabilities, alongside rare symptoms like optic atrophy and Dandy-Walker spectrum features.
- The research aims to enhance understanding of genetic disorders in the MENA region, highlighting the unique genetic variations present despite the rarity of these conditions.
Article Synopsis
- DBR1 is vital for lariat debranching and its deficiency leads to a severe immune disorder resulting in pediatric brainstem viral-induced encephalitis.
- A specific variant in DBR1 has been linked to a new allelic disorder observed in four families, characterized by prematurity, severe growth issues, skin abnormalities, and high infant mortality.
- Research on patient fibroblast cells revealed unique RNA changes and decreased DBR1 protein levels, suggesting this new disorder differs from the known encephalitis susceptibility associated with DBR1 deficiency.