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Congenital disorder of glycosylation (CDG) type Ie. A new patient
Author(s) -
GarcíaSilva M. T.,
Matthijs G.,
Schollen E.,
Cabrera J. C.,
Pozo J. Sanchez,
Herreros M. Martí,
Simón R.,
Maties M.,
Hernández E. Martín,
Hennet T.,
Briones P.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000042984.42433.d8
Subject(s) - microcephaly , compound heterozygosity , global developmental delay , exon , atrophy , mutation , endoplasmic reticulum , biology , glycosylation , cerebral atrophy , genetics , medicine , endocrinology , gene , phenotype
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.