Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Autor: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Beneteau C; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Fox RG; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Khan A; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Joubert M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Musquer M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Le Vaillant C; CHU Nantes, Department of Obstetrics and Gynecology, Nantes, France., Holsclaw JK; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Lim D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom; Department of Medicine, University of Birmingham, Birmingham, United Kingdom., Berking AC; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Cogné B; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Salick MR; Insitro, South San Francisco, CA., Kaykas A; Insitro, South San Francisco, CA., Eggan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA., Capra V; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Bézieau S; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org., Wells MF; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA. Electronic address: mfwells@mednet.ucla.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101057. Date of Electronic Publication: 2023 Dec 27.

An investigation of genetic variability of DNA methyltransferases DNMT3A and 3B does not provide evidence for a major role in the pathogenesis of panic disorder and dimensional anxiety phenotypes.

Autor: Berking AC; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Margarete-Höppel Platz 1, 97080, Würzburg, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Thiel C; Department of Psychiatry and Psychotherapy, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany., Schiele MA; Department of Psychiatry and Psychotherapy, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany., Baumann C; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Margarete-Höppel Platz 1, 97080, Würzburg, Germany.; Department of Psychology (Biological Psychology, Clinical Psychology, and Psychotherapy), Center of Mental Health, University of Würzburg, Würzburg, Germany., Kalisch R; Neuroimaging Center (NIC), Johannes Gutenberg University Medical Center, Mainz, Germany.; Leibniz Institute for Resilience Research, Mainz, Germany.; Catholic University of Applied Science Münster, Münster, Germany., Notzen S; Catholic University of Applied Science Münster, Münster, Germany.; Department of Psychiatry, University of Münster, Münster, Germany., Zwanzger P; Department of Psychiatry and Psychotherapy, District Hospital Gabersee, Wasserburg am Inn, Germany.; Department of Psychiatry, University of Münster, Münster, Germany.; Department of Psychiatry and Psychotherapy LMU, Munich, Germany., Pané-Farré CA; Institute of Psychology, University of Greifswald, Greifswald, Germany.; Institute of Psychology, Philipps University Marburg, Marburg, Germany., Hamm A; Institute of Psychology, University of Greifswald, Greifswald, Germany., Alpers GW; Department of Psychology, School of Social Sciences, University of Mannheim, Mannheim, Germany., Fydrich T; Institute of Psychology, Humboldt University, Berlin, Germany., Fehm L; Institute of Psychology, Humboldt University, Berlin, Germany., Gerlach AL; Institute of Clinical Psychology and Psychotherapy, University of Cologne, Cologne, Germany., Straube B; Department of Psychiatry and Psychotherapy, University Hospital of Marburg, Marburg, Germany., Kircher T; Department of Psychiatry and Psychotherapy, University Hospital of Marburg, Marburg, Germany., Rief W; Institute of Psychology, Philipps University Marburg, Marburg, Germany., Plag J; Department of Psychiatry and Psychotherapy, Charité University Medicine, Campus Charité Mitte, Berlin, Germany., Ströhle A; Department of Psychiatry and Psychotherapy, Charité University Medicine, Campus Charité Mitte, Berlin, Germany., Lang T; Christoph-Dornier-Foundation for Clinical Psychology, Bremen, Germany.; Department of Psychology and Methods, Jacobs University Bremen, Bremen, Germany., Wittchen HU; Institute of Clinical Psychology and Psychotherapy, TU Dresden, Dresden, Germany.; Department of Psychiatry and Psychotherapy LMU, Munich, Germany., Arolt V; Department of Psychiatry, University of Münster, Münster, Germany., Romanos M; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany., Pauli P; Department of Psychology (Biological Psychology, Clinical Psychology, and Psychotherapy), Center of Mental Health, University of Würzburg, Würzburg, Germany., Reif A; Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital of Frankfurt, Frankfurt, Germany., Deckert J; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Margarete-Höppel Platz 1, 97080, Würzburg, Germany., Domschke K; Department of Psychiatry and Psychotherapy, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Center for Basics in NeuroModulation, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Weber H; Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Margarete-Höppel Platz 1, 97080, Würzburg, Germany. Weber_H@ukw.de.

Publikováno v: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2020 Nov; Vol. 127 (11), pp. 1527-1537. Date of Electronic Publication: 2020 May 29.