دورية أكاديمية
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
| العنوان: | Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I. |
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| المؤلفون: | Naguib S; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Mansour LA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.; Egyptian Group for Orphan Renal Disease (EGORD), Cairo, Egypt.; Department of Clinical Genetics, Egypt Center for Research and Regenerative Medicine (ECRRM), Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., El-Hanafy HM; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Fahmy YA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.; Egyptian Group for Orphan Renal Disease (EGORD), Cairo, Egypt., Elmonem MA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.; Department of Clinical Genetics, Egypt Center for Research and Regenerative Medicine (ECRRM), Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Halim RMA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.; Department of Clinical and Chemical Pathology, Faculty of Medicine, New Giza University, Giza, Egypt. |
| المصدر: | Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2024 Apr; Vol. 28 (4), pp. 151-158. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New Rochelle, NY : Mary Ann Liebert, Inc. |
| مواضيع طبية MeSH: | Hyperoxaluria, Primary*/genetics , Transaminases*/genetics , Transaminases*/metabolism, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Young Adult ; Egypt ; Frameshift Mutation/genetics ; Homozygote ; Mutation ; Mutation, Missense/genetics |
| مستخلص: | Introduction: Approximately 80% of primary hyperoxaluria cases are caused by primary hyperoxaluria type 1 (PH1, OMIM# 259900), which is characterized by pathogenic variants in the AGXT gene, resulting in deficiency of the liver-specific enzyme alanine-glyoxylate aminotransferase (AGT). This leads to increased production of oxalate, which cannot be effectively eliminated from the body, resulting in its accumulation primarily in the kidneys and other organs. Subjects and Methods: This study included 17 PH1 Egyptian patients from 12 unrelated families, recruited from the Inherited Kidney Disease Outpatient Clinic and the Dialysis Units, Cairo University Hospitals, during the period from January 2018 to December 2019, aiming to identify the pathogenic variants in the AGXT gene. Results: Six different variants were detected. These included three frameshift and three missense variants, all found in homozygosity within the respective families. The most common variant was c.121G>A;p.(Gly41Arg) detected in four families, followed by c.725dup;p.(Asp243GlyfsTer12) in three families, c.33dup;p.(Lys12Glnfs156) in two families, and c.731T >C;p.(Ile244Thr), c.33delC;p.(Lys12Argfs34), and c.568G>A;p.(Gly190Arg) detected in one family each. Conclusion: Consanguineous Egyptian families with history of renal stones or renal disease suspicious of primary hyperoxaluria should undergo AGXT genetic sequencing, specifically targeting exons 1 and 7, as variants in these two exons account for >75% of disease-causing variants in Egyptian patients with confirmed PH1. |
| فهرسة مساهمة: | Keywords: Egypt; agxt; nephrocalcinosis; nephrolithiasis; primary hyperoxaluria |
| المشرفين على المادة: | EC 2.6.1.44 (Alanine-glyoxylate transaminase) EC 2.6.1.- (Transaminases) |
| SCR Disease Name: | Primary hyperoxaluria type 1 |
| تواريخ الأحداث: | Date Created: 20240424 Date Completed: 20240424 Latest Revision: 20240506 |
| رمز التحديث: | 20240507 |
| DOI: | 10.1089/gtmb.2023.0525 |
| PMID: | 38657121 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1945-0257 |
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| DOI: | 10.1089/gtmb.2023.0525 |