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

http://www.ncbi.nlm.nih.gov/pubmed/15669674

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 RIS Download

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