Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen; Kristina Falkenstein; Corina Weigel; Hidde Huidekoper; Nora Naumann-Bartsch; Johannes Spenger; René G. Feichtinger; Jacqueline Schaefers; Stephanie Frenz; Daniel Kotlarz; Tooba Momen; Razieh Khoshnevisan; Korbinian M. Riedhammer; René Santer; Theresia Herget; Alexander Rennings; Dirk J. Lefeber; Johannes A. Mayr; Christian Thiel; Saskia B. Wortmann

doi:10.1002/jimd.12426

Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen
, Kristina Falkenstein
, Corina Weigel
, Hidde Huidekoper
, Nora Naumann-Bartsch
, Johannes Spenger
, René G. Feichtinger
, Jacqueline Schaefers
, Stephanie Frenz
, Daniel Kotlarz
, Tooba Momen
, Razieh Khoshnevisan
, Korbinian M. Riedhammer
, René Santer
, Theresia Herget
, Alexander Rennings
, Dirk J. Lefeber
, Johannes A. Mayr
, Christian Thiel
, Saskia B. Wortmann^*

^*Corresponding author for this work

Pediatrics

Heidelberg University
Friedrich-Alexander University Erlangen-Nürnberg
Medical University of Vienna
Klinikum der Universität München
Isfahan University of Medical Sciences
Klinikum rechts der Isar der Technischen Universität München
University Medical Center Hamburg-Eppendorf
Radboud University Medical Center
Donders Institute for Brain, Cognition and Behaviour

Research output: Contribution to journal › Article › Academic › peer-review

27 Citations (Scopus)

26 Downloads (Pure)

Abstract

Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

Original language	English
Pages (from-to)	1441-1452
Number of pages	12
Journal	Journal of Inherited Metabolic Disease
Volume	44
Issue number	6
Early online date	12 Aug 2021
DOIs	https://doi.org/10.1002/jimd.12426
Publication status	Published - Nov 2021

Bibliographical note

Funding Information:
Deutsche Forschungsgemeinschaft, Forschungsgruppe FOR 2509, Project-ID TH1461/7-2; European Comission, E-Rare-3 Joint Transnational Call 2018/ EUROGLYCANOMICS in association with the DFG, Project-ID TH1461/9-1; Oesterreichische Nationalbank, Grant/Award Number: 18023

Publisher Copyright:
© 2021 SSIEM

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Hullen_J Inh Met Dis_2021Accepted author manuscript, 1.19 MB

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Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C., & Wortmann, S. B. (2021). Congenital disorders of glycosylation with defective fucosylation. Journal of Inherited Metabolic Disease, 44(6), 1441-1452. https://doi.org/10.1002/jimd.12426

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title = "Congenital disorders of glycosylation with defective fucosylation",

abstract = "Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.",

author = "Andreas H{\"u}llen and Kristina Falkenstein and Corina Weigel and Hidde Huidekoper and Nora Naumann-Bartsch and Johannes Spenger and Feichtinger, \{Ren{\'e} G.\} and Jacqueline Schaefers and Stephanie Frenz and Daniel Kotlarz and Tooba Momen and Razieh Khoshnevisan and Riedhammer, \{Korbinian M.\} and Ren{\'e} Santer and Theresia Herget and Alexander Rennings and Lefeber, \{Dirk J.\} and Mayr, \{Johannes A.\} and Christian Thiel and Wortmann, \{Saskia B.\}",

note = "Funding Information: Deutsche Forschungsgemeinschaft, Forschungsgruppe FOR 2509, Project-ID TH1461/7-2; European Comission, E-Rare-3 Joint Transnational Call 2018/ EUROGLYCANOMICS in association with the DFG, Project-ID TH1461/9-1; Oesterreichische Nationalbank, Grant/Award Number: 18023 Publisher Copyright: {\textcopyright} 2021 SSIEM",

year = "2021",

month = nov,

doi = "10.1002/jimd.12426",

language = "English",

volume = "44",

pages = "1441--1452",

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Hüllen, A, Falkenstein, K, Weigel, C, Huidekoper, H, Naumann-Bartsch, N, Spenger, J, Feichtinger, RG, Schaefers, J, Frenz, S, Kotlarz, D, Momen, T, Khoshnevisan, R, Riedhammer, KM, Santer, R, Herget, T, Rennings, A, Lefeber, DJ, Mayr, JA, Thiel, C & Wortmann, SB 2021, 'Congenital disorders of glycosylation with defective fucosylation', Journal of Inherited Metabolic Disease, vol. 44, no. 6, pp. 1441-1452. https://doi.org/10.1002/jimd.12426

TY - JOUR

T1 - Congenital disorders of glycosylation with defective fucosylation

AU - Hüllen, Andreas

AU - Falkenstein, Kristina

AU - Weigel, Corina

AU - Huidekoper, Hidde

AU - Naumann-Bartsch, Nora

AU - Spenger, Johannes

AU - Feichtinger, René G.

AU - Schaefers, Jacqueline

AU - Frenz, Stephanie

AU - Kotlarz, Daniel

AU - Momen, Tooba

AU - Khoshnevisan, Razieh

AU - Riedhammer, Korbinian M.

AU - Santer, René

AU - Herget, Theresia

AU - Rennings, Alexander

AU - Lefeber, Dirk J.

AU - Mayr, Johannes A.

AU - Thiel, Christian

AU - Wortmann, Saskia B.

N1 - Funding Information: Deutsche Forschungsgemeinschaft, Forschungsgruppe FOR 2509, Project-ID TH1461/7-2; European Comission, E-Rare-3 Joint Transnational Call 2018/ EUROGLYCANOMICS in association with the DFG, Project-ID TH1461/9-1; Oesterreichische Nationalbank, Grant/Award Number: 18023 Publisher Copyright: © 2021 SSIEM

PY - 2021/11

Y1 - 2021/11

N2 - Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

AB - Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

UR - https://www.scopus.com/pages/publications/85114939467

U2 - 10.1002/jimd.12426

DO - 10.1002/jimd.12426

M3 - Article

C2 - 34389986

AN - SCOPUS:85114939467

SN - 0141-8955

VL - 44

SP - 1441

EP - 1452

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

Congenital disorders of glycosylation with defective fucosylation

Abstract

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