Congenital disorder of glycosylation (CDG) type Ie. A new patient
- 1 September 2004
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 27 (5), 591-600
- https://doi.org/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.Keywords
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