title: Congenital disorder of glycosylation (CDG) type Ie. A new patient.
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.
authors.affiliation: Department of Paediatrics, Hospital 12 de Octubre, Madrid, Spain. mgarcias.hdoc@salud.madrid.org
authors.forename: M T
authors.initials: MT
authors.lastname: García-Silva
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: J C
authors.initials: JC
authors.lastname: Cabrera
authors.forename: J
authors.initials: J
authors.lastname: Sanchez del Pozo
authors.forename: M
authors.initials: M
authors.lastname: Martí Herreros
authors.forename: R
authors.initials: R
authors.lastname: Simón
authors.forename: M
authors.initials: M
authors.lastname: Maties
authors.forename: E
authors.initials: E
authors.lastname: Martín Hernández
authors.forename: T
authors.initials: T
authors.lastname: Hennet
authors.forename: P
authors.initials: P
authors.lastname: Briones
mesh_terms: D001921:Brain / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis*; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics; D005091:Exons; D019066:Facies; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D017353:Gene Deletion; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008070:Lipopolysaccharides / Q000032:analysis; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000172:deficiency* / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D008070:Lipopolysaccharides; C023023:lipid-linked oligosaccharides; D008364:Mannosyltransferases; C022755:dolichyl-phosphate beta-D-mannosyltransferase