Phenotypic Study of Egyptian Pediatric Patients with Criglar Najjar Syndrome
/ 0
- Details
- Category: Vol. 92, December 2024
- Hits: 13
Phenotypic Study of Egyptian Pediatric Patients with Criglar Najjar Syndrome, MOHAMMED A. KHEDR, TAMER H.A. AMMAR, BEHAIRY E. BEHAIRY, NORA A. ZEITOON, ASHRAF Y. ELFERT and HOSAM EL DIN M. BASIOUNY
Abstract
Background:Crigler-Najjar syndrome (CNS) is an uncom-mon autosomal recessive hereditary condition characterized by severe unconjugated nonhemolytic hyperbilirubinemia from infancy. It is caused by a defect of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A. Aim of Study: We aimed to identify mutations in exons (2-4) in the UGT1A1 gene in Egyptian CNS patients. Material and Method: The UGT1A1 gene’s exons (2-4) were then molecularly examined using PCR amplification and singe sequencing of the coding regions after ten Egyptian CNS patients had been clinically identified. Results: The patients were between the ages of 3 and 18, with an average age of 8.3±4.74 years. All patients (100%) had positive consanguinity, and 50% of cases had positive family history. Forty percent of the patients had delayed verbal and/ or social or motor milestones, whereas the remaining sixty per-cent of patients had normal developmental milestones (6/10). The aggressive behavior exacerbates the illness. CNS type I affected 10 patients (100%) while type II affected 0 instances (0%). No deleterious mutations were found in exons (2-4) of UGT1A1 gene. Conclusion: This study found no mutations in the three studied exons (exons 2-4) of the UGT1A1 gene. This highlights the importance of studying the rest of the exons of the UGT1A1 gene.