具有1型唾液酸转铁蛋白模式且种族多样的先天性糖基化障碍患者的临床和分子特征。
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
作者信息
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 Jaak, Matthijs Gert, Behera Sarina, Hudgins Louanne
机构信息
Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, California 94305, USA.
出版信息
J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658.
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.
目的
为提高对糖基化先天性疾病（CDG）的认识，我们报告了一系列临床表现各异的患者的特征，这些表现从轻症肌张力减退和斜视到严重神经功能损害不等。
研究设计
对9名来自北美、具有不同种族背景的I型CDG患者进行了研究。
结果
所有患者的转铁蛋白等电聚焦研究均显示为1型唾液酸转铁蛋白模式。分子分析表明，4名患者存在先前描述的PMM2基因R141H、V231M和T237M突变，两名亚洲患者的PMM2基因存在3种罕见突变（DeltaC389、L104V和IVS1-1 G→A）。
结论
这些具有不同种族背景患者的临床特征证实了I型CDG病程的多样性。对于有相对轻度神经功能损害的儿童，尤其是有小脑发育不全和脂肪分布异常等提示性表现的儿童，应考虑进行CDG筛查。
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