title: Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
abstract: Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans. Among the many different subtypes of CDG, the defect of a mannosyltransferase encoded by the human ALG3 gene (chromosome 3q27) is known to cause CDG Id. Six patients with CDG Id have been described in the literature so far. We further delineate the clinical, biochemical, neuroradiological and molecular features of CDG Id by reporting an additional patient bearing a novel missense mutation in the ALG3 gene. All patients with CDG Id display a slowly progressive encephalopathy with microcephaly, severe psychomotor retardation and epileptic seizures. They also share some typical dysmorphic features but they do not present the multisystem involvement observed in other CDG syndromes or any biological marker abnormalities. Unusually marked osteopenia is a feature in some patients and may remain undiagnosed until revealed by pathological fractures. Serum transferrin screening for CDG should be extended to all patients with encephalopathy of unknown origin, even in the absence of multisystem involvement.
authors.affiliation: Division of Molecular Pediatrics, University Hospital of Lausanne, Lausanne, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Rimella-Le-Huu
authors.forename: H
authors.initials: H
authors.lastname: Henry
authors.forename: I
authors.initials: I
authors.lastname: Kern
authors.forename: S
authors.initials: S
authors.lastname: Hanquinet
authors.forename: E
authors.initials: E
authors.lastname: Roulet-Perez
authors.forename: C J
authors.initials: CJ
authors.lastname: Newman
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: L
authors.initials: L
authors.lastname: Bonafé
authors.forename: D
authors.initials: D
authors.lastname: Ballhausen
mesh_terms: D015415:Biomarkers / Q000097:blood; D001921:Brain / Q000201:enzymology / Q000473:pathology; D002657:Child Development; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D009460:Neurologic Examination; D010641:Phenotype; D014168:Transferrin / Q000032:analysis
chemical_list: D015415:Biomarkers; D014168:Transferrin; C489947:ALG3 protein, human; D008364:Mannosyltransferases