Journal of Inherited Metabolic Disease

, Volume 27, Issue 5, pp 591–600

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

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

DOI: 10.1023/B:BOLI.0000042984.42433.d8

Cite this article as:
García-Silva, M.T., Matthijs, G., Schollen, E. et al. J Inherit Metab Dis (2004) 27: 591. doi:10.1023/B:BOLI.0000042984.42433.d8

Abstract

Summary: 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: DPM1, 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.

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • M. T. García-Silva
    • 1
  • G. Matthijs
    • 2
  • E. Schollen
    • 2
  • J. C. Cabrera
    • 3
  • J. Sanchez del Pozo
    • 1
  • M. Martí Herreros
    • 3
  • R. Simón
    • 1
  • M. Maties
    • 4
  • E. Martín Hernández
    • 1
  • T. Hennet
    • 5
  • P. Briones
    • 6
  1. 1.Department of PaediatricsHospital 12 de OctubreMadridSpain
  2. 2.Centre for Human GeneticsCatholic University of LeuvenLeuvenBelgium
  3. 3.Departamento de PediatríaUnidad de Enfermedades Mitocondriales – Enfermedades Metabólicas Hereditarias, Hospital 12 de Octubre, Avda. de Córdoba s/nMadridSpain. E-mail
  4. 4.Department of BiochemistryHospital Ramón y CajalMadridSpain
  5. 5.Institute of PhysiologyUniversity of ZürichZürichSwitzerland
  6. 6.Instituto de Bioquímica ClínicaCorporació Sanitària Clínic y CSICBarcelonaSpain