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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira, Carlos R; Xia, Zhi-Jie; Clément, Aurélie; Parry, David A; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T; Blanco-Sánchez, Bernardo; Ng, Bobby G; Logan, Clare V; Wolfe, Lynne A; Solomon, Benjamin D; Cho, Megan T; Douglas, Ganka; Carvalho, Daniel R; Bratke, Heiko; Haug, Marte Gjøl; Phillips, Jennifer B; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjö, Anna; Duker, Angela L; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zöe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M; Phillips, John A; Tiller, George E; Wilson, William G; Hamid, Rizwan; Malicdan, May C V; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew.
Afiliação
  • Ferreira CR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Division of Genetics and Metabolism, Children's National Health System, Washington, DC 20010, USA. Electronic address: carlos.ferreira@nih.gov.
  • Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
  • Clément A; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Parry DA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Davids M; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Sharma P; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Turgeon CT; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
  • Blanco-Sánchez B; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
  • Logan CV; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Wolfe LA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Solomon BD; GeneDx, Gaithersburg, MD 20877, USA.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Douglas G; GeneDx, Gaithersburg, MD 20877, USA.
  • Carvalho DR; Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasília-DF, 70335-901, Brazil.
  • Bratke H; Department of Internal Medicine, Section of Paediatrics, Haugesund District Hospital, Fonna Health Trust, 5527 Haugesund, Norway.
  • Haug MG; Department of Medical Genetics, St. Olav's Hospital, 7006 Trondheim, Norway.
  • Phillips JB; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Wegner J; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
  • Tiemeyer M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
  • Aoki K; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
  • Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Duker AL; Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
  • Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, 78234, USA; Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, 78229, USA.
  • Hove HB; Section of Rare Disorders, Department of Pediatrics, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Ek J; Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Adams D; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Onyekweli T; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Weixel T; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Macnamara E; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Radtke K; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Powis Z; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Earl D; Division of Genetic Medicine, Seattle Children's, Seattle, WA, 98105, USA.
  • Gabriel M; Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA 90027, USA.
  • Russi AHS; Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA 90027, USA.
  • Brick L; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton Ontario L8S 4J9, Canada.
  • Kozenko M; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton Ontario L8S 4J9, Canada.
  • Tham E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Raymond KM; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
  • Phillips JA; Division of Medical genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
  • Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA 90027, USA.
  • Wilson WG; Department of Pediatrics, University of Virginia Health System, Charlottesville, VA 20903, USA.
  • Hamid R; Division of Medical genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
  • Malicdan MCV; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama 350-0495, Japan.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Jackson A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Am J Hum Genet ; 103(4): 553-567, 2018 10 04.
Article em En | MEDLINE | ID: mdl-30290151
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteoglicanas / Transporte Proteico / Proteínas de Transporte Vesicular / Síndrome do Cromossomo X Frágil Limite: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteoglicanas / Transporte Proteico / Proteínas de Transporte Vesicular / Síndrome do Cromossomo X Frágil Limite: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article