RFT1-CDG in adult siblings with novel mutations

Mol Genet Metab. 2012 Dec;107(4):760-2. doi: 10.1016/j.ymgme.2012.10.002. Epub 2012 Oct 13.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Siblings*
  • Young Adult

Substances

  • Membrane Glycoproteins
  • RFT1 protein, human