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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji, Amal; Bruun, Theodora U J; Sidky, Sarah; Cordeiro, Dawn; Cohn, Ronald D; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Siriwardena, Komudi; Kyriakopoulou, Lianna; Mercimek-Mahmutoglu, Saadet.
Afiliación
  • Al Teneiji A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bruun TU; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Biochemistry, Univ
  • Sidky S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cordeiro D; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cohn RD; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Moharir M; Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Raiman J; Birmingham's Children Hospital, Birmingham, England.
  • Siriwardena K; Department of Medical Genetics, University of Alberta, Edmonton, Canada.
  • Kyriakopoulou L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, U
Mol Genet Metab ; 120(3): 235-242, 2017 03.
Article en En | MEDLINE | ID: mdl-28122681
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II. MATERIAL AND METHODS: All patients with CDG-I and CDG-II evaluated in our institution's Metabolic Genetics Clinics were included. Electronic and paper patient charts were reviewed. We set-up a high performance liquid chromatography transferrin isoelectric focusing (TIEF) method to measure transferrin isoforms in our Institution. We reviewed the literature for the rare CDG-I and CDG-II subtypes seen in our Institution. RESULTS: Fifteen patients were included: 9 with PMM2-CDG and 6 with non-PMM2-CDG (one ALG3-CDG, one ALG9-CDG, two ALG11-CDG, one MPDU1-CDG and one ATP6V0A2-CDG). All patients with PMM2-CDG and 5 patients with non-PMM2-CDG showed abnormal TIEF suggestive of CDG-I or CDG-II pattern. In all patients, molecular diagnosis was confirmed either by single gene testing, targeted next generation sequencing for CDG genes, or by whole exome sequencing. CONCLUSION: We report 15 new patients with CDG-I and CDG-II. Whole exome sequencing will likely identify more patients with normal TIEF and expand the phenotypic spectrum of CDG-I and CDG-II.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferrina / Análisis de Secuencia de ADN / Trastornos Congénitos de Glicosilación / Redes Reguladoras de Genes / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferrina / Análisis de Secuencia de ADN / Trastornos Congénitos de Glicosilación / Redes Reguladoras de Genes / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos