title: Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
abstract: OBJECTIVE
  To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment.
  
  
  METHODS
  Nine North American patients with CDG type I and different ethnic origins were studied.
  
  
  RESULTS
  All patients had transferrin isoelectric focusing studies with a type 1 sialotransferrin pattern. Molecular analysis showed the previously described R141H, V231M, and T237M PMM2 mutations in four patients as well as 3 rare mutations (DeltaC389, L104V, and IVS1 -1 G-->A) in the PMM2 gene in two Asian patients.
  
  
  CONCLUSIONS
  The clinical features of these patients with diverse ethnic backgrounds confirm the variable course of CDG type I. Screening for CDG should be considered in children with relatively mild neurologic impairment, especially if they have suggestive findings such as cerebellar hypoplasia and abnormal fat distribution.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, California 94305, USA.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
authors.forename: Neil
authors.initials: N
authors.lastname: Buist
authors.forename: Charles
authors.initials: C
authors.lastname: Cowan
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Leppig
authors.forename: Marjorie F
authors.initials: MF
authors.lastname: McCracken
authors.forename: Vibeke
authors.initials: V
authors.lastname: Westphal
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
authors.forename: John F
authors.initials: JF
authors.lastname: O'brien
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Sarina
authors.initials: S
authors.lastname: Behera
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D014168:Transferrin / Q000032:analysis*
chemical_list: D014168:Transferrin