Clinical and Genetic Study of Exons (23, 24, 26, 27) of ABCB11 Gene in Egyptian Progressive Familial Intrahepatic Cholestasis 2 Patients

ASHRAF Y. ELFERT, M.D.3; MONA S. TANTAWY, M.D.4; MOHAMED SABBAH MOHAMED, M.Sc.5 And, GIHAN A. SOBHY, M.D.1; MOHAMMED A. KHEDR, M.D.1; TAMER H.A. AMMAR, M.D.2; ALIF A. ALLAM, M.D.1;, ;

doi:10.21608/mjcu.2024.388591

Clinical and Genetic Study of Exons (23, 24, 26, 27) of ABCB11 Gene in Egyptian Progressive Familial Intrahepatic Cholestasis 2 Patients

Document Type : Original Article

Authors

GIHAN A. SOBHY, M.D.1 ASHRAF Y. ELFERT, M.D.3; MONA S. TANTAWY, M.D.4; MOHAMED SABBAH MOHAMED, M.Sc.5 and
; MOHAMMED A. KHEDR, M.D.1; TAMER H.A. AMMAR, M.D.2; ALIF A. ALLAM, M.D.1;

The Department of Pediatric Hepatology, Gastroenterology, and Nutrition, National Liver Institute1, Medical Molecular Genetics Department, Institute of Human Genetics and Genome Research2, Clinical Biochemistry and Molecular Diagnostics Department, National Liver Institute3, Department of Pathology, National Liver Institute, Menoufia University4 and Pediatric Department, Shebin Al-Qanater Central Hospital

10.21608/mjcu.2024.388591

Abstract

Background: Mutations in the ABCB11 gene result in the uncommon autosomal recessive disease known as progressive familial intrahepatic cholestasis type 2 (PFIC2). Cholestasis with low γ-glutamyltransferase (GGT), hepatosplenomegaly, and severe pruritus are among the clinical symptoms. The exact prevalence is unclear, however the incidence is thought to be between one in 50,000 and one in 100,000 births. These diseas-es affect both sexes equally and have been reported globally. When a bypass treatment fails or a patient develops increas-ing liver disease, liver transplantation is necessary and thought to be curative. Even though bile salt excretory pump (BSEP) failure in PFIC2 is a liver-specific issue rather than a systemic disease, a small percentage of allografts have demonstrated in-dications of recurrent BSEP disease. Aim of Study: Determine which exons (23, 24, 26, 27) in the ABCB11 gene are mutated in Egyptian PFIC2 patients. Material and Methods: Ten Egyptian Pfic2 patients were clinically diagnosed, and exons (23, 24, 26, 27) of the ABCB11 gene were then molecularly screened utilizing PCR amplifica-tion and singer sequencing of the coding areas. Results: There were no harmful mutations discovered. Two polymorphisms: A novel c.3056+50A>C and c.477+16G>A were found. Conclusion: There were no pathogenic mutations found during the screening of exons (23, 24, 26, 27) of the ABCB11 gene in PFIC2, hence it is advised to screen the whole gene and use advanced method of screening find the pathogenic muta-tions in the affected cases.

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