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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

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Title: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Authors: van Oirsouw ASE; Graduate School of Life Sciences, Utrecht University, Heidelberglaan 8, 3584 CS Utrecht, The Netherlands.; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Universiteitsweg 100, Utrecht 3584 CG, The Netherlands., Koetsier M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Peters EDJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Assia Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Centerl, 14 Kaplan St., Petah Tikva 4920235, Israel., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, United Kingdom., Beil A; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States., Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, 179 Bd Maréchal Juin, Valence 26000, France., Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands., Carere DA; GeneDx, LLC, 207 Perry Parkway, Gaithersburg, MD 20877, United States., Cogne B; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France., Dunnington L; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States., Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.; Manton Center for Orphan Disease Research, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States., Isidor B; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France., Januel L; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France., Joshi A; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom., Lahiri N; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom., Lee KN; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States., Maya I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, 39 Jabotinski St., Petah Tikva 49100, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, 35 Klatzkin St, Tel Aviv 6997801, Israel., McEntagart M; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom., Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States., Pujalte M; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France., Richardson K; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States., Walker S; Genomics England, Translational Genomics, One Canada Square, London E14 5AB, United Kingdom., Koeleman BPC; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.; Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
Source: Human molecular genetics [Hum Mol Genet] 2025 Aug 16; Vol. 34 (16), pp. 1353-1367.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
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  Data: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
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  Data: <searchLink fieldCode="AU" term="%22van+Oirsouw+ASE%22">van Oirsouw ASE</searchLink>; Graduate School of Life Sciences, Utrecht University, Heidelberglaan 8, 3584 CS Utrecht, The Netherlands.; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hadders+MA%22">Hadders MA</searchLink>; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Universiteitsweg 100, Utrecht 3584 CG, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koetsier+M%22">Koetsier M</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Peters+EDJ%22">Peters EDJ</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Assia+Batzir+N%22">Assia Batzir N</searchLink>; Pediatric Genetics Unit, Schneider Children's Medical Centerl, 14 Kaplan St., Petah Tikva 4920235, Israel.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Beil+A%22">Beil A</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States.<br /><searchLink fieldCode="AU" term="%22Bonnet-Dupeyron+MN%22">Bonnet-Dupeyron MN</searchLink>; Consultations de Génétique, Centre Hospitalier de Valence, 179 Bd Maréchal Juin, Valence 26000, France.<br /><searchLink fieldCode="AU" term="%22Boone+PM%22">Boone PM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Carere+DA%22">Carere DA</searchLink>; GeneDx, LLC, 207 Perry Parkway, Gaithersburg, MD 20877, United States.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Dunnington+L%22">Dunnington L</searchLink>; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Farach+LS%22">Farach LS</searchLink>; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.; Manton Center for Orphan Disease Research, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Januel+L%22">Januel L</searchLink>; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France.<br /><searchLink fieldCode="AU" term="%22Joshi+A%22">Joshi A</searchLink>; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lahiri+N%22">Lahiri N</searchLink>; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lee+KN%22">Lee KN</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States.<br /><searchLink fieldCode="AU" term="%22Maya+I%22">Maya I</searchLink>; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, 39 Jabotinski St., Petah Tikva 49100, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, 35 Klatzkin St, Tel Aviv 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22McEntagart+M%22">McEntagart M</searchLink>; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Northrup+H%22">Northrup H</searchLink>; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Pujalte+M%22">Pujalte M</searchLink>; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France.<br /><searchLink fieldCode="AU" term="%22Richardson+K%22">Richardson K</searchLink>; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, Translational Genomics, One Canada Square, London E14 5AB, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Koeleman+BPC%22">Koeleman BPC</searchLink>; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.; Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
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