Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
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.
Enns
Gregory M
GM
Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, California 94305, USA.
Steiner
Robert D
RD
Buist
Neil
N
Cowan
Charles
C
Leppig
Kathleen A
KA
McCracken
Marjorie F
MF
Westphal
Vibeke
V
Freeze
Hudson H
HH
O'brien
John F
JF
Jaeken
Jaak
J
Matthijs
Gert
G
Behera
Sarina
S
Hudgins
Louanne
L
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*
D014168:Transferrin