RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

  • D. QuelhasEmail author
  • J. Jaeken
  • A. Fortuna
  • L. Azevedo
  • A. Bandeira
  • G. Matthijs
  • E. Martins
Research Report
Part of the JIMD Reports book series (JIMD, volume 43)


This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G > A (p.G276D), c.73C > T (p.R25W), and c.208T > C (p.C70R).


CDG Congenital disorder(s) of glycosylation Deafness Phenotype RFT1 



The authors thank Prof. T. Hennet for the lipid-linked oligosaccharide analysis of fibroblasts from both patients.


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • D. Quelhas
    • 1
    • 2
    Email author
  • J. Jaeken
    • 3
  • A. Fortuna
    • 1
    • 2
  • L. Azevedo
    • 4
    • 5
    • 6
  • A. Bandeira
    • 7
  • G. Matthijs
    • 8
  • E. Martins
    • 2
    • 7
  1. 1.Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do PortoPortoPortugal
  2. 2.Unit for Multidisciplinary Research in Biomedicine, ICBAS, UPPortoPortugal
  3. 3.Center for Metabolic DiseasesKU LeuvenLeuvenBelgium
  4. 4.i3S-Instituto de Investigação e Inovação em Saúde, UP, Population Genetics and Evolution GroupPortoPortugal
  5. 5.IPATIMUP-Institute of Molecular Pathology and Immunology, UPPortoPortugal
  6. 6.FCUP-Department of Biology, Faculty of Sciences, UPPortoPortugal
  7. 7.Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar do PortoPortoPortugal
  8. 8.Department of Human GeneticsKU LeuvenLeuvenBelgium

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