Article
A form of muscular dystrophy associated with pathogenic variants in JAG2.
American journal of human genetics - 6 May 2021
Coppens Sandra, Barnard Alison M, Puusepp Sanna, Pajusalu Sander, Õunap Katrin, Vargas-Franco Dorianmarie, Bruels Christine C, Donkervoort Sandra, Pais Lynn, Chao Katherine R, Goodrich Julia K, England Eleina M, Weisburd Ben, Ganesh Vijay S, Gudmundsson Sanna, O'Donnell-Luria Anne, Nigul Mait, Ilves Pilvi, Mohassel Payam, Siddique Teepu, Milone Margherita, Nicolau Stefan, Maroofian Reza, Houlden Henry, Hanna Michael G, Quinlivan Ros, Beiraghi Toosi Mehran, Ghayoor Karimiani Ehsan, Costagliola Sabine, Deconinck Nicolas, Kadhim Hazim, Macke Erica, Lanpher Brendan C, Klee Eric W, Łusakowska Anna, Kostera-Pruszczyk Anna, Hahn Andreas, Schrank Bertold, Nishino Ichizo, Ogasawara Masashi, El Sherif Rasha, Stojkovic Tanya, Nelson Isabelle, Bonne Gisèle, Cohen Enzo, Boland-Augé Anne, Deleuze Jean-François, Meng Yao, Töpf Ana, Vilain Catheline, Pacak Christina A, Rivera-Zengotita Marie L, Bönnemann Carsten G, Straub Volker, Handford Penny A, Draper Isabelle, Walter Glenn A, Kang Peter B
Abstract excerpt
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23 individuals with genetically unsolved muscular dystrophy from 13 unrelated families. Whole-exome sequencing identified rare homozygous or compound heterozygous JAG2 variants in all 13 families. The...
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