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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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RFT1-CDG in adult siblings with novel mutations

Nina Ondruskova1, Katerina Vesela, Hana Hansikova

  • 1Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

Molecular Genetics and Metabolism
|November 1, 2012
PubMed

Insights

This study describes two adult siblings with RFT1-CDG, a rare N-glycosylation disorder. Their milder presentation expands the known clinical spectrum of this genetic condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Medicine

Background:

  • RFT1-CDG is a rare N-glycosylation disorder.
  • Previously described cases (n=6) presented with severe failure to thrive, feeding problems, hypotonia, developmental delay, epilepsy, vision/hearing loss, and thrombotic complications.

Observation:

  • Two adult siblings with RFT1-CDG, compound heterozygotes for novel RFT1 mutations (c.1222A>G [p.M408V] and c.1325G>A [p.R442Q]), were studied.
  • These siblings presented with profound intellectual disability but lacked feeding issues or failure to thrive.

Findings:

  • Epilepsy in these patients was well-controlled.
  • Coagulopathy was mild and asymptomatic.
  • Visual acuity was normal, and hearing impairment was noted in only one sibling.

Implications:

  • This report expands the known clinical phenotype of RFT1-Congenital Disorder of Glycosylation.
  • The findings suggest variability in disease presentation and severity based on RFT1 mutations.

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