title: RFT1-CDG in adult siblings with novel mutations.
abstract: RFT1-CDG is a rare N-glycosylation disorder. Only 6 children with RFT1-CDG have been described, all with failure to thrive, feeding problems, hypotonia, developmental delay, epilepsy, decreased vision, deafness and thrombotic complications. We report on two young adult siblings with RFT1-CDG, compound heterozygotes for the novel missense mutations c.1222A>G (p.M408V) and c.1325G>A (p.R442Q) in RFT1 gene. Similar to the previously described patients, these siblings have profound intellectual disability but no feeding problems or failure to thrive. Their epilepsy is well controlled and coagulopathy is mild without clinical consequences. In addition, visual acuity is normal in both patients and hearing impairment is present only in one. Our findings extend the phenotype associated with RFT1-CDG.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors.forename: Nina
authors.initials: N
authors.lastname: Ondruskova
authors.forename: Katerina
authors.initials: K
authors.lastname: Vesela
authors.forename: Hana
authors.initials: H
authors.lastname: Hansikova
authors.forename: Martin
authors.initials: M
authors.lastname: Magner
authors.forename: Jiri
authors.initials: J
authors.lastname: Zeman
authors.forename: Tomas
authors.initials: T
authors.lastname: Honzik
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D035781:Siblings; D055815:Young Adult
chemical_list: D008562:Membrane Glycoproteins; C486729:RFT1 protein, human