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, 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).
KeywordsCDG 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.