Publications by authors named "Abeer Alsayegh"
Article Synopsis
- Early diagnosis of inborn errors of immunity (IEIs) is essential due to high risks of illness and death; this study focused on Omani patients to identify genetic causes and survival rates of IEIs.
- Over 17 years, 185 Omani patients were evaluated, revealing that most had genetic diagnoses related to immunity problems, with common symptoms like respiratory infections and developmental issues.
- The study found that a significant percentage of patients had autosomal recessive genetic defects, and the overall survival rate was 75.1%, indicating potential for improved management and outcomes through earlier detection.*
Article Synopsis
- The study examined how clinical and demographic factors affect the effectiveness of Whole Exome Sequencing (WES) for diagnosing Autism Spectrum Disorder (ASD) in children from a consanguineous background.
- Out of 97 children analyzed, 63% were male, with a high percentage (77.3%) suspected of having a syndromic cause; many also had additional health conditions including central nervous system issues.
- The overall diagnostic success of WES in identifying genetic causes for ASD was 34%, with children experiencing seizures having higher positive results (46% vs. 31%).
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis.
View Article and Find Full Text PDFCongenital contractural arachnodactyly, commonly known as Beal's syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures.
View Article and Find Full Text PDFThe duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.
View Article and Find Full Text PDFWe have identified an alternative pathway of tumorigenesis in sporadic colon cancer, involving microsatellite instability due to mismatched repair methylation, which may be driven by mutations in the BRAF gene (V600E). Colorectal cancer (CRC) is the most common cancer in the world, and African Americans show a higher incidence than other populations in the United States. We analyzed sporadic CRCs in Omani (of African origin, N = 61), Iranian (of Caucasian origin, N = 53) and African American (N = 95) patients for microsatellite instability, expression status of mismatched repair genes (hMLH1, hMSH2) and presence of the BRAF (V600E) mutation.
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