RFT1-CDG in adult siblings with novel mutations

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, compou...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2012-12, Vol.107 (4), p.760-762
Main Authors: Ondruskova, Nina, Vesela, Katerina, Hansikova, Hana, Magner, Martin, Zeman, Jiri, Honzik, Tomas
Format: Article
Language:English
Subjects:
Acuity
Children
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - genetics
Deafness
Epilepsy
Exons
Feeding
Female
Hearing loss
Heterozygote
Heterozygotes
Humans
lipid-linked oligosaccharide
Male
Membrane Glycoproteins - genetics
Mental retardation
Missense mutation
Mutation
RFT1-CDG
Siblings
Vision
Young Adult
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Summary: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. ► We report on two young adult (the seventh and eighth known) patient with RFT1-CDG. ► The visual acuity is normal and hearing impairment is present only in one them. ► They have no failure to thrive, epilepsy is well controlled and coagulopathy is mild. ► The molecular analysis of the RFT1 gene revealed two novel missense mutations. ► Our findings extend the phenotype associated with RFT1-CDG.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2012.10.002