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Title: Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
Authors: Enns, Gregory M ×
Steiner, Robert D
Buist, Neil
Cowan, Charles
Leppig, Kathleen A
McCracken, Marjorie F
Westphal, Vibeke
Freeze, Hudson H
O'brien, John F
Jaeken, Jacques
Matthijs, Gert
Behera, Sarina
Hudgins, Louanne #
Issue Date: Oct-2002
Series Title: Journal of Pediatrics vol:141 issue:5 pages:695-700
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. STUDY DESIGN: 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.
ISSN: 0022-3476
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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