Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

被引:30
作者
Enns, GM
Steiner, RD
Buist, N
Cowan, C
Leppig, KA
McCracken, MF
Westphal, V
Freeze, HH
O'Brien, JF
Jaeken, J
Matthijs, G
Behera, S
Hudgins, L
机构
[1] Stanford Univ, Dept Pediat, Div Med Genet, Palo Alto, CA 94304 USA
[2] Katholieke Univ Leuven, Dept Human Genet, Louvain, Belgium
[3] Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium
[4] Mayo Clin, Mayo Med Labs, Rochester, MN USA
[5] Univ Washington, Dept Pediat, Div Genet & Dev, Grp Hlth Cooperat, Seattle, WA 98195 USA
[6] Oregon Hlth Sci Univ, Doernbecher Childrens Hosp, Child Dev & Rehabil Ctr, Dept Mol & Med Genet, Portland, OR 97201 USA
[7] Oregon Hlth Sci Univ, Dept Pediat, Div Metab, Portland, OR 97201 USA
[8] Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA 90027 USA
[9] Burnham Inst, La Jolla, CA 92037 USA
[10] San Jose Hosp, San Jose, CA USA
关键词
D O I
10.1067/mpd.2002.128658
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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 CDC type I and different ethnic origins were studied. Results: All patients had transferrin isoelectric focusing studies with a type I sialotransferrin pattern. Molecular analysis showed the previously described R141 H, V231M, and T237M PMM2 mutations in four patients as well as 3 rare mutations (DeltaC389, L104V, and IVSI -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 CDC type I. Screening for CDC should be considered in children with relatively mild neurologic impairment, especially if they have suggestive Findings such as cerebellar hypoplasia and abnormal fat distribution.
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收藏
页码:695 / 700
页数:6
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