Title: Congenital disorder of glycosylation (CDG) type Ie. A new patient
Authors: García-Silva, M T ×
Matthijs, Gert
Schollen, E
Cabrera, J C
Sanchez del Pozo, J
Martí Herreros, M
Simón, R
Maties, M
Martín Hernández, E
Hennet, T
Briones, P #
Issue Date: 2004
Series Title: Journal of Inherited Metabolic Disease vol:27 issue:5 pages:591-600
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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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