Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy,...
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| Published in | American journal of human genetics Vol. 91; no. 6; pp. 1144 - 1149 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
07.12.2012
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. |
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| AbstractList | Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. [PUBLICATION ABSTRACT] Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45 , a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. |
| Author | Tarnopolsky, Mark Schwarzmayr, Thomas Graf, Elisabeth Cuno, Stephan M. Harik, Sami I. Gregory, Allison Héron, Delphine Hardy, John Meitinger, Thomas Dunaway, Todd Hogarth, Penelope Hanspal, Era Strom, Tim M. Garavaglia, Barbara Nardocci, Nardo Meyer, Esther Boddaert, Nathalie Mignot, Cyril Houlden, Henry H. Dandu, Vasuki H. Kurian, Manju A. Wieland, Thomas Zorzi, Giovanna Sanford, Lynn Hayflick, Susan J. Frucht, Steven Kruer, Michael C. Bhatia, Kailash Kara, Eleanna Haack, Tobias B. Skinner, Steven Prokisch, Holger Schrander-Stumpel, Connie |
| AuthorAffiliation | 7 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK 23 Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA 3 Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA 13 Division of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada 19 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France 22 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France 8 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 11 Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy 5 Sanford Children’s Health Research Cen |
| AuthorAffiliation_xml | – name: 17 Department of Neurology, Albany Medical College, Albany, NY 12208, USA – name: 1 Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – name: 9 Reta Lilla Weston Laboratories, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – name: 10 Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA – name: 13 Division of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada – name: 14 Greenwood Genetic Center, Greenwood, SC 29646, USA – name: 15 Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029, USA – name: 23 Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA – name: 3 Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA – name: 5 Sanford Children’s Health Research Center, Sioux Falls, SD 57104, USA – name: 16 Parkinson’s Disease and Movement Disorders Center, Albany Medical Center, Albany, NY 12208, USA – name: 19 Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France – name: 11 Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy – name: 12 Private practice, Tulsa, OK 74104, USA – name: 7 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK – name: 20 Unit of Molecular Neurogenetics, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy – name: 2 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany – name: 18 Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, 6229 GT Maastricht, Netherlands – name: 4 Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA – name: 22 Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France – name: 21 Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – name: 8 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – name: 6 Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK |
| Author_xml | – sequence: 1 givenname: Tobias B. surname: Haack fullname: Haack, Tobias B. organization: Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – sequence: 2 givenname: Penelope surname: Hogarth fullname: Hogarth, Penelope organization: Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 3 givenname: Michael C. surname: Kruer fullname: Kruer, Michael C. organization: Sanford Children’s Health Research Center, Sioux Falls, SD 57104, USA – sequence: 4 givenname: Allison surname: Gregory fullname: Gregory, Allison organization: Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 5 givenname: Thomas surname: Wieland fullname: Wieland, Thomas organization: Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany – sequence: 6 givenname: Thomas surname: Schwarzmayr fullname: Schwarzmayr, Thomas organization: Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany – sequence: 7 givenname: Elisabeth surname: Graf fullname: Graf, Elisabeth organization: Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany – sequence: 8 givenname: Lynn surname: Sanford fullname: Sanford, Lynn organization: Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 9 givenname: Esther surname: Meyer fullname: Meyer, Esther organization: Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK – sequence: 10 givenname: Eleanna surname: Kara fullname: Kara, Eleanna organization: Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – sequence: 11 givenname: Stephan M. surname: Cuno fullname: Cuno, Stephan M. organization: Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – sequence: 12 givenname: Sami I. surname: Harik fullname: Harik, Sami I. organization: Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA – sequence: 13 givenname: Vasuki H. surname: Dandu fullname: Dandu, Vasuki H. organization: Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA – sequence: 14 givenname: Nardo surname: Nardocci fullname: Nardocci, Nardo organization: Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy – sequence: 15 givenname: Giovanna surname: Zorzi fullname: Zorzi, Giovanna organization: Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy – sequence: 16 givenname: Todd surname: Dunaway fullname: Dunaway, Todd organization: Private practice, Tulsa, OK 74104, USA – sequence: 17 givenname: Mark surname: Tarnopolsky fullname: Tarnopolsky, Mark organization: Division of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada – sequence: 18 givenname: Steven surname: Skinner fullname: Skinner, Steven organization: Greenwood Genetic Center, Greenwood, SC 29646, USA – sequence: 19 givenname: Steven surname: Frucht fullname: Frucht, Steven organization: Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029, USA – sequence: 20 givenname: Era surname: Hanspal fullname: Hanspal, Era organization: Parkinson’s Disease and Movement Disorders Center, Albany Medical Center, Albany, NY 12208, USA – sequence: 21 givenname: Connie surname: Schrander-Stumpel fullname: Schrander-Stumpel, Connie organization: Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, 6229 GT Maastricht, Netherlands – sequence: 22 givenname: Delphine surname: Héron fullname: Héron, Delphine organization: Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France – sequence: 23 givenname: Cyril surname: Mignot fullname: Mignot, Cyril organization: Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France – sequence: 24 givenname: Barbara surname: Garavaglia fullname: Garavaglia, Barbara organization: Unit of Molecular Neurogenetics, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy – sequence: 25 givenname: Kailash surname: Bhatia fullname: Bhatia, Kailash organization: Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – sequence: 26 givenname: John surname: Hardy fullname: Hardy, John organization: Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – sequence: 27 givenname: Tim M. surname: Strom fullname: Strom, Tim M. organization: Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – sequence: 28 givenname: Nathalie surname: Boddaert fullname: Boddaert, Nathalie organization: Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France – sequence: 29 givenname: Henry H. surname: Houlden fullname: Houlden, Henry H. organization: Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK – sequence: 30 givenname: Manju A. surname: Kurian fullname: Kurian, Manju A. organization: Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK – sequence: 31 givenname: Thomas surname: Meitinger fullname: Meitinger, Thomas organization: Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – sequence: 32 givenname: Holger surname: Prokisch fullname: Prokisch, Holger organization: Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany – sequence: 33 givenname: Susan J. surname: Hayflick fullname: Hayflick, Susan J. email: hayflick@ohsu.edu organization: Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26711369$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/23176820$$D View this record in MEDLINE/PubMed |
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| References | Proikas-Cezanne, Waddell, Gaugel, Frickey, Lupas, Nordheim (bib6) 2004; 23 Kruer, Boddaert, Schneider, Houlden, Bhatia, Gregory, Anderson, Rooney, Hogarth, Hayflick (bib3) 2012; 33 Gregory, Hayflick (bib1) 2011; 11 Moog, Smeets, van Roozendaal, Schoenmakers, Herbergs, Schoonbrood-Lenssen, Schrander-Stumpel (bib8) 2003; 7 Allen, Zoghbi, Moseley, Rosenblatt, Belmont (bib9) 1992; 51 Li, Roberts (bib7) 2001; 58 Gregory, Polster, Hayflick (bib2) 2009; 46 Mayr, Haack, Graf, Zimmermann, Wieland, Haberberger, Superti-Furga, Kirschner, Steinmann, Baumgartner (bib4) 2012; 90 Behrends, Sowa, Gygi, Harper (bib5) 2010; 466 23939684 - Mov Disord. 2013 Jul;28(8):1050 23868373 - Mov Disord. 2013 Jul;28(8):1051-2 Allen (10.1016/j.ajhg.2012.10.019_bib9) 1992; 51 Gregory (10.1016/j.ajhg.2012.10.019_bib2) 2009; 46 Moog (10.1016/j.ajhg.2012.10.019_bib8) 2003; 7 Proikas-Cezanne (10.1016/j.ajhg.2012.10.019_bib6) 2004; 23 Gregory (10.1016/j.ajhg.2012.10.019_bib1) 2011; 11 Kruer (10.1016/j.ajhg.2012.10.019_bib3) 2012; 33 Mayr (10.1016/j.ajhg.2012.10.019_bib4) 2012; 90 Behrends (10.1016/j.ajhg.2012.10.019_bib5) 2010; 466 Li (10.1016/j.ajhg.2012.10.019_bib7) 2001; 58 |
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