Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Autor: Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Türkiye., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Sonmez FM; Department of Child Neurology, Faculty of Medicine, Retired lecturer, Karadeniz Technical University, Trabzon, Türkiye.; Private Office, Ankara, Türkiye., Smol T; Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France., Tümer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Mancılar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Geylan Durgun DE; Ultramar Medical Imaging Center, Ankara, Türkiye., Boute O; Clinique de Génétique, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France., Moghbeli M; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.; Acibadem Maslak Hospital, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 52-60. Date of Electronic Publication: 2023 Oct 26.