Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip
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DOI：
10.1002/humu.22019
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发表时间：
2012-03-01
期刊：
影响因子：
3.9
通讯作者：
Koerner, Christian
中科院分区：
文献类型：
--
作者：
Thiel, Christian;Rind, Nina;Koerner, Christian
先天性糖基化紊乱(CDG)是一组临床和生化异质性的单基因遗传性多系统疾病，影响糖结合物链N-和/或O-糖链的生物合成。最近，我们发现了第一例胞浆导向的GDP-甘露糖缺陷的患者：Man3-4GlcNAc2-PP-DOLICHOLα-1，2-甘露糖基转移酶(ALG11)，他表现为缩短的DOLO连接的寡糖积累导致CDG-Ip(ALG11-CDG)。在这里，我们描述了一种改进的代谢标记方法，它允许识别到目前为止在常规诊断中遗漏的三个新的CDG-Ip病例。虽然所有CDG-Ip患者携带不同的ALG11基因突变，但他们都有各种临床症状，如在出生后一年内出现发育迟缓、精神运动和智力低下、斜视和癫痫发作。哼唱，2012年33：485487。(C)2011年威利期刊公司。
Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man3-4GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life. Hum Mutat 33:485487, 2012. (C) 2011 Wiley Periodicals, Inc.