DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype
DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype
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DOI：
10.1002/ajmg.a.35472
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发表时间：
2012-08-01
影响因子：
2
通讯作者：
Perez Cerda, Celia
中科院分区：
文献类型：
--
作者：
Arroyo Carrera, Ignacio;Matthijs, Gert;Perez Cerda, Celia
先天性糖基化障碍(CDG)是由于糖蛋白或糖脂的糖链部分合成缺陷以及糖链与蛋白质和脂类的结合缺陷引起的。目前已鉴定出约50个CDG。它们对临床医生来说是一个挑战，因为大多数是多系统疾病，具有不同的临床表现，涉及任何器官和系统。我们报告了一例由DPAGT1基因编码的糖基转移酶突变的患者，这是一种罕见的CDG。他表现为严重的胎儿运动减少和羊水过多。出生时面部表情减退，没有鼻唇皱褶，柔软的长耳朵，上唇红肿，皮肤厚，多毛，驼趾，中度多发性痉挛，低张力和严重的运动减退，没有自发的运动，在刺激下非常有限的运动；他在1个半月时去世。血清转铁蛋白等电聚焦呈1型模式，伴有唾液酸化和二唾液酸化转铁蛋白的增加。对DPAGT1基因的研究表明，他是两个新的点错义突变[c中心点901C>；T]+[c中心点1094T>；G]的复合杂合子。这种表型扩大了少数报道的DPATG1-CDG患者的临床特征。(C)2012年威利期刊公司。
Congenital disorders of glycosylation (CDG) are due to either defects in the synthesis of the glycan moiety of glycoproteins or glycolipids and in the attachment of the glycans to proteins and lipids. Some 50 CDG have been identified. They represent a challenge for clinicians because most are multisystem diseases with a heterogeneous spectrum of clinical manifestations with involvement of any organ and system. We report on a patient with a mutation in the glycosyltransferase encoded by the DPAGT1 gene, an infrequent CDG. He showed severe fetal hypokinesia phenotype with decreased fetal movements and polyhydramnios. At birth he showed decreased facial expression, without nasolabial folds, soft long ears, U-shaped vermilion of the upper lip, thick skin, hypertrichosis, camptodactyly, moderate multiple contractures, hypotonia and severe hypokinesia, no spontaneous movements, and very limited movements with stimuli; he died at 1 1/2 months. Isoelectrofocusing of serum transferrin showed a type 1 pattern with increased asialo- and disialotransferrin. The study of the DPAGT1 gene showed he was a compound heterozygote for two novel point missense mutations [c center dot 901C>T]+[c center dot 1094T>G]. This phenotype expands the clinical features of the few DPATG1-CDG patients reported. (C) 2012 Wiley Periodicals, Inc.