Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

Autor: Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel., Kreuder F; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA., Duvdevani MP; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Tammer L; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Xin B; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Rice J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia., van Eyk CL; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia., Gecz J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Mah JK; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Atkinson D; Max Planck Institute of Immunobiology and Epigenetics, Freiburg 79108, Germany; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Douek AM; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Colquhoun D; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Henry J; School of Science, RMIT University, Melbourne, VIC 3000, Australia., Wlodkowic D; School of Science, RMIT University, Melbourne, VIC 3000, Australia., Parman Y; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Candayan A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey., Kocasoy-Orhan E; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel., Ilivitzki A; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel., Soudry S; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel., Leibu R; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel., Glaser F; The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion - Israel Institute of Technology, Haifa 3200003, Israel., Sency V; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Ast G; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Fahey MC; Department of Pediatrics, Monash University, Melbourne, VIC 3800, Australia., Battaloğlu E; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey., Jordanova A; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria., Meiner V; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Innes AM; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Wang H; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Kaslin J; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: hagitbf@tlvmc.gov.il.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Mar 03; Vol. 109 (3), pp. 518-532. Date of Electronic Publication: 2022 Feb 01.