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

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.

Pubmed ID: 15669674

Authors

  • García-Silva MT
  • Matthijs G
  • Schollen E
  • Cabrera JC
  • Sanchez del Pozo J
  • Martí Herreros M
  • Simón R
  • Maties M
  • Martín Hernández E
  • Hennet T
  • Briones P

Journal

Journal of inherited metabolic disease

Publication Data

January 26, 2004

Associated Grants

None

Mesh Terms

  • Brain
  • Carbohydrate Metabolism, Inborn Errors
  • Child
  • Developmental Disabilities
  • Exons
  • Facies
  • Female
  • Fibroblasts
  • Gene Deletion
  • Heterozygote
  • Homozygote
  • Humans
  • Lipopolysaccharides
  • Magnetic Resonance Imaging
  • Male
  • Mannosyltransferases
  • Microcephaly
  • Mutation
  • Optic Atrophy
  • Tomography, X-Ray Computed