Phenotypic Study of Egyptian Pediatric Patients with Criglar Najjar Syndrome | ||||
| The Medical Journal of Cairo University | ||||
| Volume 92, Issue 12, December 2024, Page 997-1001 PDF (94.13 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/mjcu.2024.411317 | ||||
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| Author | ||||
| MOHAMMED A. KHEDR, M.D.1; TAMER H.A. AMMAR, M.D.2; BEHAIRY E. BEHAIRY, M.D.1; NORA A. ZEITOON, M.Sc.2; ASHRAF Y. ELFERT, M.D.3 and HOSAM EL DIN M. BASIOUNY, M.D.1 | ||||
| The Department of Pediatric Hepatology, Gastroenterology and Nutrition, National Liver Institute, Menoufia University1, Medical Molecular Genetics Department, Institute of Human Genetics and Genome Research, National Research Centre (NRC)2, Clinical Biochemistry and Molecular Diagnostics Department, National Liver Institute, Menoufia University3 and Pediatric Department, Raas-Teen Hospital, Ministry of Health and Population | ||||
| Abstract | ||||
| 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. | ||||
| Keywords | ||||
| Crigler-Najjar syndrome – Indirect hyperbili-rubenemia; Jaundice – Uridine diphosphate glu-curonosyltransferase | ||||
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