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Tytuł:
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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
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Autorzy:
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Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Bertola DR; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil. Electronic address: .
Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Saito A; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Segawa Y; Department of Orthopedic Surgery, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Yokota T; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Ishibashi S; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Nishida Y; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Yamamoto GL; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Franco JFDS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Honjo RS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Kim CA; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Musso CM; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Timmons M; Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Taft RJ; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
Lajoie B; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
Knight MA; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Fischbeck KH; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Singleton AB; Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD 20892, USA.
Ferreira CR; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA, and Division of Genetics and Metabolism, Children's National Health System, Washington, DC 20010, USA.
Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, People's Republic of China.
Yan L; Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, People's Republic of China.
Garbern JY; Center of Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA.
Simsek-Kiper PO; Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey.
Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama 330-8777, Japan.
Robey PG; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA.
Boyde A; Biophysics, Oral Growth and Development, Dental Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Spranger J; Central German Competence Center for Rare Diseases (MKSE), Magdeburg 39120, Germany; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Schiffmann R; Baylor Scott & White Research Institute, Dallas, TX 75204, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nishimura G; Intractable Disease Center, Saitama University Hospital, Moro 350-0495, Japan.
Passos-Bueno MRDS; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Simons C; Translational Bioinformatics Group, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC 3052, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
Ishikawa K; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan. Electronic address: .
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Źródło:
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American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 925-935. Date of Electronic Publication: 2019 Apr 11.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
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MeSH Terms:
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Mutation*
Brain/*abnormalities
Leukoencephalopathies/*etiology
Osteochondrodysplasias/*etiology
Osteosclerosis/*etiology
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/*genetics
Adolescent ; Adult ; Alleles ; Animals ; Brain/metabolism ; Brain/pathology ; Child, Preschool ; Female ; Humans ; Leukoencephalopathies/pathology ; Male ; Mice ; Mice, Knockout ; Osteochondrodysplasias/pathology ; Osteosclerosis/pathology ; Phenotype ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/physiology ; Young Adult
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Contributed Indexing:
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Keywords: CSF1R; HDLS; Pyle disease; dysosteosclerosis; leukoencephalopathy; mutation; osteoclast; osteosclerosis; skeletal dysplasia
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Substance Nomenclature:
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0 (CSF1R protein, human)
0 (Csf1r protein, mouse)
0 (Receptors, Granulocyte-Macrophage Colony-Stimulating Factor)
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SCR Disease Name:
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Dysosteosclerosis; Hereditary Diffuse Leukoencephalopathy with Spheroids; Pyle disease
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Entry Date(s):
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Date Created: 20190416 Date Completed: 20200206 Latest Revision: 20200824
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Update Code:
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20240104
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PubMed Central ID:
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PMC6507048
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DOI:
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10.1016/j.ajhg.2019.03.004
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PMID:
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30982609
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Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an adult-onset progressive neurodegenerative disorder. Here, we report seven affected individuals from three unrelated families who had bi-allelic CSF1R mutations. In addition to early-onset HDLS-like neurological disorders, they had brain malformations and skeletal dysplasia compatible to dysosteosclerosis (DOS) or Pyle disease. We identified five CSF1R mutations that were homozygous or compound heterozygous in these affected individuals. Two of them were deep intronic mutations resulting in abnormal inclusion of intron sequences in the mRNA. Compared with Csf1r-null mice, the skeletal and neural phenotypes of the affected individuals appeared milder and variable, suggesting that at least one of the mutations in each affected individual is hypomorphic. Our results characterized a unique human skeletal phenotype caused by CSF1R deficiency and implied that bi-allelic CSF1R mutations cause a spectrum of neurological and skeletal disorders, probably depending on the residual CSF1R function.
(Copyright © 2019 American Society of Human Genetics. All rights reserved.)
