Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Autor: Küry S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany., Mollé A; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Lee MK; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Vignard V; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Hery T; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Cogné B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Li H; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France., Fourgeux C; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Verheijen FW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Faurie E; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Barr E; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Sheffer R; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94304, USA., Stimach CL; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Kovitch E; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Smith W; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA., van Jaarsveld RH; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Smith K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Baugh EH; Genomic Medicine, Columbia University, New York, NY 10032, USA., Bohm SG; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Vyhnálková E; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic., Delnatte C; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Neira J; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France., Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratory, Houston, TX 77021, USA., Audebert-Bellanger S; CHRU Brest, Génétique Médicale, 29609 Brest, France., Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808, Université Poitiers, 86034 Poitiers, France., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares,' Centre de Référence Anomalies du Développement CLAD-Ouest, ERN ITHACA, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290 IGDR 'Institut de Génétique et développement de Rennes,' Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France., Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France., Berger SI; Center for Genetic Medicine Research/Rare Disease Institute, Children's National Medical Center, Washington, DC 20010, USA., Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, 10/10C103, MSC 1851, Bethesda, MD 20892, USA., Bourdeaut F; Institut Curie, SIREDO (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), 75005 Paris, France., Stern MH; Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma, Equipe Labellisée Par la Ligue Nationale Contre le Cancer, 75248 Paris, France., Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany., Margueron R; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Poschmann J; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 361-372. Date of Electronic Publication: 2022 Jan 19.