Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

Esfandiari Hamed; Mets Marilyn B.; Kim Katherine H.; Kurup Sudhi P.

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Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

机译：具有先天性糖基化型Ig患者的患者的眼睛异常

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Background: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature. Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12. Results: In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions. Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.

机译：背景：先天性糖基化（CDG）的先天性疾病是一组遗传性多系统疾病，其特征在于糖蛋白的低糖基化。 CDG I型导致脂质 - Linkedoligosachers组合或转移到新生糖蛋白上的缺陷。在CDG中，眼镜异常常见，但没有报告文献中CDG Ig患者的细微眼科评价。材料与方法：回顾性图表综述CDG型Ig案例中具有新型基因的新型Ig：ALG12。结果：除了CDG的典型全身发现外，我们的案例还发现具有外斜曲面，双侧疾病和视网膜炎，在光学和施力条件下熄灭电气图术。结论：我们希望通过这些眼科观察来扩展对ALG12相关CDG型Ig的理解。

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来源
《Ophthalmic genetics》 |2019年第6期|共4页
作者
Esfandiari Hamed; Mets Marilyn B.; Kim Katherine H.; Kurup Sudhi P.;
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作者单位

Ann &

Robert H Lurie Childrens Hosp Chicago Div Ophthalmol 225 E Chicago Ave Box 70 Chicago IL;

Ann &

Robert H Lurie Childrens Hosp Chicago Div Ophthalmol 225 E Chicago Ave Box 70 Chicago IL;

Ann &

Robert H Lurie Childrens Hosp Chicago Div Genet Birth Defects &

Metab Chicago IL 60611 USA;

Ann &

Robert H Lurie Childrens Hosp Chicago Div Ophthalmol 225 E Chicago Ave Box 70 Chicago IL;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
Congenital disorders of glycosylation; CDG-Ig; carbohydrate-deficient glycoprotein syndrome; ocular abnormalities; facial dysmorphism; retinitis pigmentosa; cataract;

机译：糖基化的先天性疾病;CDG-Ig;碳水化合物缺乏糖蛋白综合征;眼镜异常;面部瘤病症;视网膜炎;白内障;白内障;
入库时间 2022-08-20 05:21:01

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专利

1. Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig [J] . Esfandiari Hamed, Mets Marilyn B., Kim Katherine H., Ophthalmic genetics . 2019,第6期

机译：具有先天性糖基化型Ig患者的患者的眼睛异常
2. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. [J] . Eklund EA, Merbouh N, Ichikawa M, Glycobiology. . 2005,第11期

机译：疏水性Man-1-P衍生物可纠正I型先天性糖基化成纤维细胞异常糖基化。
3. Deficiency of dolichyl-P-Man: Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig [J] . Thiel C, Schwarz M, Hasilik M, The Biochemical Journal . 2002,第Pta1期

机译：dolichyl-P-Man的缺乏：Man（7）GlcNAc（2）-PP-dolichyl甘露糖基转移酶导致先天性糖基化Ig型疾病
4. Congenital Disorders of Glycosylation (CDG): an Overview [C] . Jaak Jaeken International Carbohydrate Symposium . 2013

机译：先天性糖基化（CDG）的先天性疾病：概述
5. Modeling congenital disorders of glycosylation in Caenorhabditis elegans: Genetic influences and structural consequences of N-linked glycosylation [D] . Struwe, Weston Booth 2009

机译：秀丽隐杆线虫的先天性糖基化疾病建模：N-连锁糖基化的遗传影响和结构后果
6. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. [O] . Christian Thiel, Markus Schwarz, Martin Hasilik, 2002

机译：dolichyl-P-Man：Man7GlcNAc2-PP-dolichyl甘露糖基转移酶的缺乏会导致先天性糖基化Ig型疾病。
7. HYDROPHOBIC MAN-1-P DERIVATIVES CORRECT ABNORMAL GLYCOSYLATION IN TYPE I CONGENITAL DISORDER OF GLYCOSYLATION FIBROBLASTS [O] . Erik A. Eklund, Nabyl Merbouh, Mie Ichikawa, 2005

机译：疏水性maN-1-p衍生物纠正糖基化成纤维细胞Ⅰ型先天性异常糖尿病的异常糖基化反应

Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

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