Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

The American Journal of Human Genetics - Tập 91 Số 6 - Trang 1144-1149 - 2012
Tobias B. Haack1,2, Penelope Hogarth3,4, Michael C. Kruer5, Allison Gregory3, Thomas Wieland1, Thomas Schwarzmayr1, Elisabeth Graf1, Lynn Sanford3, Esther Meyer6,7, Eleanna Kara8,9, Stephan M. Cuno1,2, Sami I. Harik10, Vasuki Dandu10, Nardo Nardocci11, Giovanna Zorzi11, Todd Dunaway12, Mark A. Tarnopolsky13, Steven A. Skinner14, Steven J. Frucht15, Era Hanspal16,17, Connie Schrander‐Stumpel18, Delphine Héron19, Cyril Mignot19, Barbara Garavaglia20, Kailash P. Bhatia21, John Hardy8,9, Tim M. Strom1,2, Nathalie Boddaert22, Henry Houlden8, Manju A. Kurian6,7, Thomas Meitinger1,2, Holger Prokisch1,2, Susan J. Hayflick3,4,23
1Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany
2Institute of Human Genetics, Technische Universität München, 85748 Munich, Germany
3Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA
4Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA
5Sanford Children’s Health Research Center, Sioux Falls, SD 57104, USA
6Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK
7Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK
8Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
9Reta Lilla Weston Laboratories, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
10Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
11Unit of Child Neurology, Department of Pediatric Neuroscience Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy
12Private practice, Tulsa, OK 74104, USA
13Division of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada
14Greenwood Genetic Center, Greenwood, SC, 29646, USA
15Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029, USA
16Department of Neurology, Albany Medical College, Albany, NY 12208 USA
17Parkinson’s Disease and Movement Disorders Center, Albany Medical Center, Albany, NY 12208, USA
18Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, 6229 GT Maastricht, Netherlands
19Clinical Genetics Unit, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris, France
20Unit of Molecular Neurogenetics, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Neurological Institute “Carlo Besta,” 20133 Milan, Italy
21Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
22Department of Paediatric Radiology, Hôpital Necker Enfants Malades, 75743 Paris, France
23Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Gregory, 2011, Genetics of neurodegeneration with brain iron accumulation, Curr. Neurol. Neurosci. Rep., 11, 254, 10.1007/s11910-011-0181-3

Gregory, 2009, Clinical and genetic delineation of neurodegeneration with brain iron accumulation, J. Med. Genet., 46, 73, 10.1136/jmg.2008.061929

Kruer, 2012, Neuroimaging features of neurodegeneration with brain iron accumulation, AJNR Am. J. Neuroradiol., 33, 407, 10.3174/ajnr.A2677

Mayr, 2012, Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome, Am. J. Hum. Genet., 90, 314, 10.1016/j.ajhg.2011.12.005

Behrends, 2010, Network organization of the human autophagy system, Nature, 466, 68, 10.1038/nature09204

Proikas-Cezanne, 2004, WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy, Oncogene, 23, 9314, 10.1038/sj.onc.1208331

Li, 2001, WD-repeat proteins: Structure characteristics, biological function, and their involvement in human diseases, Cell. Mol. Life Sci., 58, 2085, 10.1007/PL00000838

Moog, 2003, Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2), Eur. J. Paediatr. Neurol., 7, 5, 10.1016/S1090-3798(02)00134-4

Allen, 1992, Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation, Am. J. Hum. Genet., 51, 1229

Thông tin
Thông tin xuất bản

The American Journal of Human Genetics

Tập 91 Số 6

1144-1149

Thông tin tác giả