Article

Journal of Inherited Metabolic Disease

, Volume 27, Issue 5, pp 591-600

First online:

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

  • M. T. García-SilvaAffiliated withDepartment of Paediatrics, Hospital 12 de Octubre
  • , G. MatthijsAffiliated withCentre for Human Genetics, Catholic University of Leuven
  • , E. SchollenAffiliated withCentre for Human Genetics, Catholic University of Leuven
  • , J. C. CabreraAffiliated withDepartamento de Pediatría, Unidad de Enfermedades Mitocondriales – Enfermedades Metabólicas Hereditarias, Hospital 12 de Octubre, Avda. de Córdoba s/n
  • , J. Sanchez del PozoAffiliated withDepartment of Paediatrics, Hospital 12 de Octubre
  • , M. Martí HerrerosAffiliated withDepartamento de Pediatría, Unidad de Enfermedades Mitocondriales – Enfermedades Metabólicas Hereditarias, Hospital 12 de Octubre, Avda. de Córdoba s/n
  • , R. SimónAffiliated withDepartment of Paediatrics, Hospital 12 de Octubre
  • , M. MatiesAffiliated withDepartment of Biochemistry, Hospital Ramón y Cajal
  • , E. Martín HernándezAffiliated withDepartment of Paediatrics, Hospital 12 de Octubre
    • , T. HennetAffiliated withInstitute of Physiology, University of Zürich
    • , P. BrionesAffiliated withInstituto de Bioquímica Clínica, Corporació Sanitària Clínic y CSIC

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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.