title: Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.
abstract: An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type 1a. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type 1a without severe psychomotor retardation.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology and Division of Pediatric Neurology, Emma Children's Hospital Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: C H
authors.initials: CH
authors.lastname: van Ommen
authors.forename: M
authors.initials: M
authors.lastname: Peters
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001778:Blood Coagulation Disorders / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis*; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D010733:Phosphoglucomutase / Q000235:genetics; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics
chemical_list: D017875:Phosphotransferases (Phosphomutases); D010733:Phosphoglucomutase; C052799:phosphomannomutase