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

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Title: Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
Authors: Chacon-Millan P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Delicato A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Mahmood A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiStaBiF), University of Campania 'Luigi Vanvitelli,' Caserta, Italy., Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, Naples, Italy., Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Duroure K; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Serafini M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Kroll F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., El-Hage O; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France., Salah S; Palestine Red Crescent Society Hospital, Hebron, Palestine., Atawneh OM; Palestine Red Crescent Society Hospital, Hebron, Palestine., Atik T; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey., Durmusalioglu EA; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey., Isik E; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey., Almontashiri NAM; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Tabarki B; Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia., Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine., Rabie G; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Spampanato C; University Hospital 'Luigi Vanvitelli,' Naples, Italy., Battaglia DI; Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Begemann A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland., Zweier M; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland., Hajianpour M; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Med Health System, Albany Medical College, Albany, NY 12208, USA., Brigatti KW; Clinic for Special Children, Gordonville, PA 17529, USA., Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Department of Genetic, Seha Virtual Hospital, Riyadh, Saudi Arabia., Maroofian R; University College London, Institute of Neurology Queen Square, London, UK., Feigerlova E; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France., Lambert L; Department of Clinical Genetics, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France., Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France., Abbott MA; Baystate Medical Center, Springfield, MA, USA., D'Alessio AM; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro 76230, Mexico., Tawk M; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France., De Matteis MA; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy., Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France., Zollino M; Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy., Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.
Corporate Authors: Telethon Undiagnosed Diseases Program
Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 562-581. Date of Electronic Publication: 2026 Feb 04.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
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  Data: <searchLink fieldCode="AU" term="%22Chacon-Millan+P%22">Chacon-Millan P</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Delicato+A%22">Delicato A</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Mahmood+A%22">Mahmood A</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiStaBiF), University of Campania 'Luigi Vanvitelli,' Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Tirozzi+A%22">Tirozzi A</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Monfregola+J%22">Monfregola J</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Duroure+K%22">Duroure K</searchLink>; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Serafini+M%22">Serafini M</searchLink>; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kroll+F%22">Kroll F</searchLink>; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22El-Hage+O%22">El-Hage O</searchLink>; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Salah+S%22">Salah S</searchLink>; Palestine Red Crescent Society Hospital, Hebron, Palestine.<br /><searchLink fieldCode="AU" term="%22Atawneh+OM%22">Atawneh OM</searchLink>; Palestine Red Crescent Society Hospital, Hebron, Palestine.<br /><searchLink fieldCode="AU" term="%22Atik+T%22">Atik T</searchLink>; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Durmusalioglu+EA%22">Durmusalioglu EA</searchLink>; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Isik+E%22">Isik E</searchLink>; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Almontashiri+NAM%22">Almontashiri NAM</searchLink>; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Tabarki+B%22">Tabarki B</searchLink>; Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Kanaan+M%22">Kanaan M</searchLink>; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Rabie+G%22">Rabie G</searchLink>; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Torella+A%22">Torella A</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Spampanato+C%22">Spampanato C</searchLink>; University Hospital 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Battaglia+DI%22">Battaglia DI</searchLink>; Child Neurology Unit, Fondazione Policlinico Universitario A. 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