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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan, Ruizhi; Marafi, Dana; Xia, Zhi-Jie; Ng, Bobby G; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K; Du, Haowei; Fatih, Jawid M; Hunter, Jill V; Elbendary, Hasnaa M; Baig, Shahid M; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Posey, Jennifer E; Houlden, Henry; Lupashin, Vladimir V; Zaki, Maha S; Freeze, Hudson H; Lupski, James R.
Afiliación
  • Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Xia ZJ; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Maroofian R; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Sumya FT; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Saad AK; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Fatih JM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Elbendary HM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Baig SM; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
  • Abdullah U; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Ali Z; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.
  • Efthymiou S; Pakistan Science Foundation (PSF), Islamabad, Pakistan.
  • Murphy D; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
  • Mitani T; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.
  • Withers MA; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Jhangiani SN; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Pehlivan D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Houlden H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupashin VV; Texas Children's Hospital, Houston, Texas, USA.
  • Zaki MS; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Freeze HH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Texas Children's Hospital, Houston, Texas, USA.
J Inherit Metab Dis ; 46(6): 1195-1205, 2023 11.
Article en En | MEDLINE | ID: mdl-37711075
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a constituent subunit of the COG complex that has not been associated with disease traits in humans. Herein, we report two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families that co-segregated with COG3-CDG presentations. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. Biochemical analysis of serum transferrin from one family showed the loss of a single sialic acid. Western blotting on patient-derived fibroblasts revealed reduced COG3 and COG4. Further experiments showed delayed retrograde vesicular recycling in patient cells. This report adds to the knowledge of the COG-CDG network by providing collective evidence for a COG3-CDG rare disease trait and implicating a likely pathology of the disorder as the perturbation of Golgi trafficking.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Proteínas Adaptadoras del Transporte Vesicular Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Proteínas Adaptadoras del Transporte Vesicular Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos