Article
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Liver international : official journal of the International Association for the Study of the Liver - 1 Sept 2025
Vandriel Shannon M, Li Li-Ting, She Huiyu, Wang Jian-She, Loomes Kathleen M, Piccoli David A, Jankowska Irena, Czubkowski Piotr, Gliwicz-Miedzińska Dorota, D'Antiga Lorenzo, Nicastro Emanuele, Lacaille Florence, Debray Dominique, Sokal Étienne M, Demaret Tanguy, Fawaz Rima L, Nastasio Silvia, Kim Kyung Mo, Oh Seak Hee, Fischler Björn, Arnell Henrik, Larson-Nath Catherine, Hardikar Winita, Shankar Sahana, Sundaram Shikha S, Chaidez Alexander, Bulut Pinar, Calvo Pier Luigi, Kasahara Mureo, Blondet Niviann, Lurz Eberhard, Kavallar Anna-Maria, Gonzales Emmanuel M, Jacquemin Emmanuel, Bouligand Jérôme, Ebel Noelle H, Feinstein Jeffrey A, Siew Susan M, Stormon Michael O, Karpen Saul J, Romero Rene, Jensen M Kyle, Jaramillo Catalina, Squires James E, Bedoyan Sarah M, Kelly Deirdre A, Hartley Jane, Verkade Henkjan J, Lee Way Seah, Lertudomphonwanit Chatmanee, Fischer Ryan T, Lin Henry C, Rock Nathalie, Mozer-Glassberg Yael, Roberts Amin J, Evans Helen M, Karnsakul Wikrom, Nebbia Gabriella, Wolters Victorien M, Valentino Pamela L, Bernabeu Jesus Quintero, Aqul Amal A, Arikan Cigdem, Tamara María Legarda, Busoms Cristina Molera, Sandahl Thomas Damgaard, Indolfi Giuseppe, Zizzo Andréanne N, Zellos Aglaia, Quiros-Tejeira Ruben E, Santos-Silva Ermelinda, Schwarz Kathleen B, Brecelj Jernej, Sanchez Maria Camila, Cavalieri Maria Lorena, Tzivinikos Christos, Wiecek Sabina, Eshun John, Kerkar Nanda, Mujawar Quais, Önal Zerrin, Gonçalves Cristina, Garcia Jennifer, Alam Seema, Jimenez-Rivera Carolina, Bujanda Luis, Thompson Richard J, Hansen Bettina E, Spinner Nancy B, Gilbert Melissa A, Kamath Binita M
Abstract excerpt
BACKGROUND & AIMS: Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease-causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely understood, making classification of variants more challenging. Using...