title: Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
abstract: Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex. TRAPPIII is implicated in the anterograde transport from the ER to the ERGIC as well as in the vesicle export from the GA. This report expands the spectrum of genetic alterations associated with CDG, providing new insights for the diagnosis and the understanding of the physiopathological mechanisms underlying glycosylation disorders.
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Leslie
authors.initials: L
authors.lastname: Matalonga
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Miren
authors.initials: M
authors.lastname: Bravo
authors.affiliation: Department Biomedicina, Universitat de Barcelona and Institut d'Investigacions Mèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
authors.forename: Carla
authors.initials: C
authors.lastname: Serra-Peinado
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: García-Pelegrí
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Olatz
authors.initials: O
authors.lastname: Ugarteburu
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Vidal
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Llambrich
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Ester
authors.initials: E
authors.lastname: Quintana
authors.affiliation: Neonatologia Hospital Universitario de Canarias, La Laguna, Sta Cruz de Tenerife, Canarias, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Fuster-Jorge
authors.affiliation: Neonatologia Hospital Universitario de Canarias, La Laguna, Sta Cruz de Tenerife, Canarias, Spain.
authors.forename: Maria Nieves
authors.initials: MN
authors.lastname: Gonzalez-Bravo
authors.affiliation: CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, Barcelona, Spain.|Universitat Pompeu Fabra (UPF), Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Beltran
authors.affiliation: Centro de Investigación Príncipe Felipe (CIPF, CIBERER), c/Eduardo Primo Yufera 3, Valencia.
authors.forename: Joaquin
authors.initials: J
authors.lastname: Dopazo
authors.affiliation: Centro de Investigación Príncipe Felipe (CIPF, CIBERER), c/Eduardo Primo Yufera 3, Valencia.
authors.forename: Francisco
authors.initials: F
authors.lastname: Garcia-Garcia
authors.affiliation: Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-, Lille, France.
authors.forename: François
authors.initials: F
authors.lastname: Foulquier
authors.affiliation: Centre for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.affiliation: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, United Kingdom.
authors.forename: Philippa
authors.initials: P
authors.lastname: Mills
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.affiliation: Department Biomedicina, Universitat de Barcelona and Institut d'Investigacions Mèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Egea
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Frederic
authors.initials: F
authors.lastname: Tort
authors.affiliation: Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
authors.forename: Marisa
authors.initials: M
authors.lastname: Girós
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D019943:Amino Acid Substitution; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics*; D000073336:Whole Genome Sequencing
chemical_list: C000613447:TRAPPC11 protein, human; D033921:Vesicular Transport Proteins
keywords: CDG; Golgi; TRAPPC11; endoplasmic reticulum; vesicle trafficking