Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

The American Journal of Human Genetics 2026 Open access

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Authors: Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi, Jlenia Monfregola, Karine Duroure, Malo Serafini, François Kroll, Océane El-Hage, Somaya Salah, Osama Atawneh, Tahir Atık
+31 more Enise Avcı Durmuşalioğlu, Esra Işık, Naif A. M. Almontashiri, Brahim M. Tabarki, Moien N Kanaan, Grace Rabie, Annalaura Torella, Carmine Spampanato, Domenica Battaglia, Anaïs Begemann, Katharina Steindl, Anita M. Rauch, Markus Zweier, M.J. Hajianpour, Karlla Welch Brigatti, Amal Mohammed Alhashem, Reza Maroofian, Eva Feigerlová, Laëtitia Lambert, François Feillet, Mary‐Alice Abbott, Alfonso Manuel D’Alessio, Claudia G. Gonzaga-Jauregui, Marcel Tawk, Maria Antonietta De Matteis, Filippo Del Bene, Marcella Zollino, Vincenzo Nigro, Rossella Venditti, Brunella Franco, Manuela Morleo
DOI: 10.1016/j.ajhg.2026.01.008
Cited by: 0
References: 78

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Endoplasmic Reticulum Stress and Disease Genomics and Rare Diseases

Publication details

Journal / source
The American Journal of Human Genetics
Volume
113
Issue
3
Pages
562–581
Publication date
4 February 2026
Language
EN