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Congenital disorder of glycosylation with defective fucosylation 1(CDGF1)

MedGen UID:
941256
•Concept ID:
CN258220
•
Disease or Syndrome
Synonym: CDGF1
 
Gene (location): FUT8 (14q23.3)
 
Monarch Initiative: MONDO:0020775
OMIM®: 618005

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Özgün N, Şahin Y
Brain Dev 2022 Mar;44(3):239-243. Epub 2021 Nov 18 doi: 10.1016/j.braindev.2021.11.001. PMID: 34802815
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH
Am J Hum Genet 2018 Dec 6;103(6):1030-1037. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.021. PMID: 30503518Free PMC Article
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C
Nat Genet 2001 May;28(1):73-6. doi: 10.1038/ng0501-73. PMID: 11326280

Diagnosis

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
Beimdiek J, Hennig R, Burock R, Puk O, Biskup S, Rapp E, Lesinski-Schiedat A, Buettner FFR, Das AM
Glycobiology 2022 Apr 21;32(5):380-390. doi: 10.1093/glycob/cwac003. PMID: 35137040
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Özgün N, Şahin Y
Brain Dev 2022 Mar;44(3):239-243. Epub 2021 Nov 18 doi: 10.1016/j.braindev.2021.11.001. PMID: 34802815
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Guillard M, Morava E, van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ
Clin Chem 2011 Apr;57(4):593-602. Epub 2011 Jan 27 doi: 10.1373/clinchem.2010.153635. PMID: 21273509
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J
J Biol Chem 2008 Mar 21;283(12):7354-60. Epub 2008 Jan 16 doi: 10.1074/jbc.M710251200. PMID: 18199743

Therapy

Congenital disorders of glycosylation with defective fucosylation.
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
J Inherit Metab Dis 2021 Nov;44(6):1441-1452. Epub 2021 Sep 15 doi: 10.1002/jimd.12426. PMID: 34389986

Prognosis

Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients.
Skurska E, Szulc B, Kreczko K, Olczak M
Int J Biochem Cell Biol 2024 Aug;173:106602. Epub 2024 Jun 4 doi: 10.1016/j.biocel.2024.106602. PMID: 38843991
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
Am J Hum Genet 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009. PMID: 29304374Free PMC Article

Clinical prediction guides

Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients.
Skurska E, Szulc B, Kreczko K, Olczak M
Int J Biochem Cell Biol 2024 Aug;173:106602. Epub 2024 Jun 4 doi: 10.1016/j.biocel.2024.106602. PMID: 38843991
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts.
Sturla L, Fruscione F, Noda K, Miyoshi E, Taniguchi N, Contini P, Tonetti M
Glycobiology 2005 Oct;15(10):924-34. Epub 2005 May 25 doi: 10.1093/glycob/cwi081. PMID: 15917429

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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