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

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

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, whic...

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Veröffentlicht in:JIMD Reports, Volume 43 Volume 43, 2019, Vol.43, p.111-116
Hauptverfasser: Quelhas, D., Jaeken, J., Fortuna, A., Azevedo, L., Bandeira, A., Matthijs, G., Martins, E.
Format: Artikel
Sprache:eng
Schlagworte:
CDG
Congenital disorder(s) of glycosylation
Deafness
Phenotype
RFT1
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Zusammenfassung: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).
ISSN:2192-8304
2192-8312
DOI:10.1007/8904_2018_112