Clinical and Molecular Study of Exons [10-14] of ABCB11 Gene in PFIC2 Patients in Egypt

MOHAMMED A. KHEDR, M.D.1; TAMER H.A. AMMAR, M.D.2;, MOHAMED A. EL-GUNDI, M.D.1; ASHRAF Y. ELFERT, M.D.3;; MONA S. TANTAWY, M.D.4; AHMED M. FETAIH, M.D.5, BASSAM AYOUB, M.D.1

doi:10.21608/mjcu.2024.371365

Clinical and Molecular Study of Exons [10-14] of ABCB11 Gene in PFIC2 Patients in Egypt

Document Type : Original Article

Authors

MOHAMED A. EL-GUNDI, M.D.1; ASHRAF Y. ELFERT, M.D.3; MOHAMMED A. KHEDR, M.D.1; TAMER H.A. AMMAR, M.D.2;
BASSAM AYOUB, M.D.1 MONA S. TANTAWY, M.D.4; AHMED M. FETAIH, M.D.5

The Department of Pediatric Hepatology, Gastroenterology, and Nutrition1, National Liver Institute, Menoufia University, Medical Molecular Genetics Department2, Institute of Human Genetics and Genome Research, National Research Centre (NRC), Clinical Biochemistry and Molecular Diagnostics Department3, National Liver Institute, Menoufia University, Department of Pathology4, National Liver Institute, Menoufia University and Pediatric Department5, Shibinel-Qanater Central Hospital

10.21608/mjcu.2024.371365

Abstract

Background: Progressive familial intrahepatic cholestasis (PFIC) is a collection of uncommon conditions that are brought on by abnormalities in bile secretion and typically manifest as intrahepatic cholestasis in infancy and youth. These genes are recessive autosomal. It is estimated that the incidence is be-tween one in 50,000 and one in 100,000 births; however, the precise prevalence is unknown. These illnesses have been doc-umented worldwide and impact both sexes equally. These can be roughly classified into three types: PFIC type 1, PFIC type 2, and PFIC type 3. The basis for this classification is the clini-cal presentation, laboratory results, liver histology, and genetic defect. In PFIC 2, the deficiency is in the ABCB11 gene, which codes for the BSEP protein. Aim of Study: Identify the mutation in exons [10-14] of the ABCB11 gene in PFIC2 patients in Egypt. Material and Method: Clinical Diagnosis of 10 Egyptian Pfic2 patients, followed by molecular screening of exons [10-14] of the ABCB11 gene using PCR amplification and sanger sequencing of coding regions. Results: No pathogenic mutations were found; 5 be-nign polymorphisms were revealed, including: c.957A>G, c.1083+18A>T, c.1281C>T, c.1331T>C, and c.1638+32T>C. Conclusion: Screening of exons [10-14] of the ABCB11 gene in PFIC2 revealed no pathogenic mutation, which rec-ommends increasing the number of screening cases and using whole exome sequencing to identify the pathogenic mutations in the affected cases.

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