Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
| العنوان: | Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency |
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| المؤلفون: | Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade |
| المساهمون: | Gastroenterology & Hepatology, Center for Liver, Digestive and Metabolic Diseases (CLDM), Institut Català de la Salut, [Felzen A, van Wessel DBE] Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands. [Gonzales E] Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Paris, France. European Reference Network on Hepatological Diseases (ERN RARE-LIVER). INSERM, Hepatinov, Université Paris-Saclay, Orsay, France. [Thompson RJ] Institute of Liver Studies, King's College London, London, United Kingdom. [Jankowska I] European Reference Network on Hepatological Diseases (ERN RARE-LIVER). Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland. [Shneider BL] Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Childhood Liver Disease Research Network (ChiLDReN). [Quintero Bernabeu J] European Reference Network on Hepatological Diseases (ERN RARE-LIVER). Unitat de Gastroenterologia, Hepatologia, Suport Nutricional i Trasplantaments Hepàtics Pediàtrics, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique |
| المصدر: | JHEP Reports, 5(2):100626. Elsevier JHEP reports : innovation in hepatology, 5(2):100626. Elsevier Scientia JHEP Reports, Vol. 5, no.2, p. 100626 (2023) |
| مصطلحات موضوعية: | Fetge - Malalties - Aspectes genètics, Surgical Procedures, Operative::Digestive System Surgical Procedures::Surgical Procedures, Operative::Surgical Procedures, Operative::Liver Transplantation [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Hepatology, Otros calificadores::Otros calificadores::/genética [Otros calificadores], phenotype, genotype, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], Gastroenterology, Fetge - Trasplantació, Polycyclic Compounds::Fused-Ring Compounds::Steroids::Bile Acids and Salts [CHEMICALS AND DRUGS], interruption of the enterohepatic circulation, compuestos policíclicos::compuestos con anillos de fusión::esteroides::ácidos y sales biliares [COMPUESTOS QUÍMICOS Y DROGAS], PFIC2, enfermedades del sistema digestivo::enfermedades hepáticas [ENFERMEDADES], Anomalies cromosòmiques, Digestive System Diseases::Liver Diseases [DISEASES], Àcids biliars - Secrecions, BSEP, COMPOUND HETEROZYGOSITY, Other subheadings::Other subheadings::/genetics [Other subheadings], Internal Medicine, Immunology and Allergy, intervenciones quirúrgicas::procedimientos quirúrgicos del sistema digestivo::intervenciones quirúrgicas::intervenciones quirúrgicas::trasplante de hígado [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS] |
| الوصف: | Compound heterozygosity; Genotype; Phenotype Heterocigosidad compuesta; Genotipo; Fenotipo Heterozigositat composta; Genotip; Fenotip Background & Aims Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods From the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results The groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 (p |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2589-5559 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a9a4bf0cbb88ad99b95105970a79be1 https://pure.eur.nl/en/publications/48dc60fd-d2f3-4015-b5b3-25d845d0ca1a |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....2a9a4bf0cbb88ad99b95105970a79be1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 25895559 |
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