Abstract
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).
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Acknowledgments
The authors thank Prof. T. Hennet for the lipid-linked oligosaccharide analysis of fibroblasts from both patients.
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Communicated by: Eva Morava, M.D., Ph.D.
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Contributors
Dulce Quelhas – writing and collection of published information, performed initial laboratory screening for CDG.
Jaak Jaeken – collaboration in paper writing and critical review.
Ana Fortuna – clinical evaluation and information collection from patient 2.
Luísa Azevedo – collaboration in writing on genetic information and critical review.
Anabela Bandeira – collected clinical information from patient 1.
Gert Matthijs – molecular screening for CDG genes.
Esmeralda Martins – supervised patient’s clinical information and critical review.
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None.
Synopsys
Lack of epilepsy and deafness in two RFT1-CDG patients.
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Dulce Quelhas, Jaak Jaeken, Ana Fortuna, Luísa Azevedo, Anabela Bandeira, Gert Matthijs, and Esmeralda Martins declare they have no conflict of interest.
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The authors performed this study in accordance with the Declaration of Helsinki of the World Medical Association. Authors did not request ethical approval from the local ethics committee due to the nature of the study.
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This article does not contain any studies with animal subjects performed by any of the authors.
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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Quelhas, D. et al. (2018). RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 43. JIMD Reports, vol 43. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_112
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DOI: https://doi.org/10.1007/8904_2018_112
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