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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

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Title: De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Authors: Fluri R; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland., Coll-Tané M; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Brunet T; TUM School of Medicine and Health, Institute of Human Genetics, TUM University Hospital, Technical University of Munich, 81675 Munich, Germany., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, 44000 Nantes, France., Conrad S; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France., Nizon M; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France., Nicita F; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Travaglini L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Glissmeyer M; Seattle Children's Hospital, Seattle, WA 98105, USA., Peterson A; Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA., Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Serber D; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Meier K; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany., Gärtner J; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany., Diegmann S; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany., Pingault V; Service de Médecine Génomique des Maladies Rares, AP-HP Centre, Hôpital Necker-Enfants Malades, 75015 Paris, France., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, AP-HP Centre, Hôpital Necker-Enfants Malades, 75015 Paris, France., Courtin T; Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, 75013 Paris, France., Schneider MC; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA., Hung W; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA., Sahai I; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Zurich, Switzerland., Mehta SG; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, and University of Cambridge, Cambridge CB2 0QQ, UK., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany., Heron D; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France., Keren B; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France., Heide S; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK., Laccone F; Center for Pathobiochemistry and Genetics, Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria., Dyer LM; GeneDx, LLC, Gaithersburg, MD 20877, USA., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA., Jones WD; The North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Wilson ZT; Southern California Kaiser Permanente Regional Metabolic Genetics Center, Los Angeles, CA 90041, USA., Vats D; Southern California Kaiser Permanente Regional Metabolic Genetics Center, Los Angeles, CA 90041, USA., Huß K; LMU Klinikum, Campus Innenstadt, Dr. von Haunersches Kinderspital und iSPZ Hauner MUC, 80337 München, Germany., Zweier C; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland., Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Gregor A; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland. Electronic address: anne.gregor@unibe.ch.
Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 02; Vol. 113 (7), pp. 1543-1557. Date of Electronic Publication: 2026 Jun 19.
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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PubType: Academic Journal
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  Data: De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
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  Data: <searchLink fieldCode="AU" term="%22Fluri+R%22">Fluri R</searchLink>; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Coll-Tané+M%22">Coll-Tané M</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; TUM School of Medicine and Health, Institute of Human Genetics, TUM University Hospital, Technical University of Munich, 81675 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, 44000 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Conrad+S%22">Conrad S</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Travaglini+L%22">Travaglini L</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Glissmeyer+M%22">Glissmeyer M</searchLink>; Seattle Children's Hospital, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Peterson+A%22">Peterson A</searchLink>; Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA.<br /><searchLink fieldCode="AU" term="%22Buchan+JG%22">Buchan JG</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Serber+D%22">Serber D</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Meier+K%22">Meier K</searchLink>; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gärtner+J%22">Gärtner J</searchLink>; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Diegmann+S%22">Diegmann S</searchLink>; Department of Pediatrics and Adolescent Medicine, Division Pediatric Neurology and German Center for Child and Adolescent Health (DZKJ), University Medical Center Göttingen, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Pingault+V%22">Pingault V</searchLink>; Service de Médecine Génomique des Maladies Rares, AP-HP Centre, Hôpital Necker-Enfants Malades, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Attie-Bitach+T%22">Attie-Bitach T</searchLink>; Service de Médecine Génomique des Maladies Rares, AP-HP Centre, Hôpital Necker-Enfants Malades, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Schneider+MC%22">Schneider MC</searchLink>; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.<br /><searchLink fieldCode="AU" term="%22Hung+W%22">Hung W</searchLink>; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.<br /><searchLink fieldCode="AU" term="%22Sahai+I%22">Sahai I</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22O'Grady+L%22">O'Grady L</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zurich, 8952 Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Mehta+SG%22">Mehta SG</searchLink>; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, and University of Cambridge, Cambridge CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22McKee+S%22">McKee S</searchLink>; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.<br /><searchLink fieldCode="AU" term="%22Laccone+F%22">Laccone F</searchLink>; Center for Pathobiochemistry and Genetics, Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Dyer+LM%22">Dyer LM</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Melver+C%22">Melver C</searchLink>; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA.<br /><searchLink fieldCode="AU" term="%22Motter+C%22">Motter C</searchLink>; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA.<br /><searchLink fieldCode="AU" term="%22Jones+WD%22">Jones WD</searchLink>; The North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.<br /><searchLink fieldCode="AU" term="%22Wilson+ZT%22">Wilson ZT</searchLink>; Southern California Kaiser Permanente Regional Metabolic Genetics Center, Los Angeles, CA 90041, USA.<br /><searchLink fieldCode="AU" term="%22Vats+D%22">Vats D</searchLink>; Southern California Kaiser Permanente Regional Metabolic Genetics Center, Los Angeles, CA 90041, USA.<br /><searchLink fieldCode="AU" term="%22Huß+K%22">Huß K</searchLink>; LMU Klinikum, Campus Innenstadt, Dr. von Haunersches Kinderspital und iSPZ Hauner MUC, 80337 München, Germany.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sticht+H%22">Sticht H</searchLink>; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Gregor+A%22">Gregor A</searchLink>; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, 3010 Bern, Switzerland. Electronic address: anne.gregor@unibe.ch.
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