Congenital disorder of glycosylation (CDG) type Ie. A new patient

J Inherit Metab Dis. 2004;27(5):591-600. doi: 10.1023/b:boli.0000042984.42433.d8.

Abstract

CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families. One was homozygous for the c274C>G (R92G) mutation in DPM1 and two others were compound heterozygous for R92G and a c628delC deletion or a c331-343del13, respectively. Clinical features were a severe infantile encephalopathy, early intractable seizures, acquired microcephaly, and some dysmorphic features. We report a patient with milder symptoms: microcephaly, dysmorphic features, developmental delay, optic atrophy, and cerebellar dysfunction without cerebellar atrophy. The patient is homozygous for a new mutation in exon 9 of the DPM1 gene (c742T>C (S248P)). Our findings extend the spectrum of CDG Ie.

Publication types

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

MeSH terms

  • Brain / pathology
  • Carbohydrate Metabolism, Inborn Errors / classification
  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Child
  • Developmental Disabilities / genetics
  • Exons
  • Facies
  • Female
  • Fibroblasts / metabolism
  • Gene Deletion
  • Heterozygote
  • Homozygote
  • Humans
  • Lipopolysaccharides / analysis
  • Magnetic Resonance Imaging
  • Male
  • Mannosyltransferases / deficiency*
  • Mannosyltransferases / genetics*
  • Microcephaly / genetics
  • Mutation
  • Optic Atrophy / genetics
  • Tomography, X-Ray Computed

Substances

  • Lipopolysaccharides
  • lipid-linked oligosaccharides
  • Mannosyltransferases
  • dolichyl-phosphate beta-D-mannosyltransferase