DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
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DOI：
10.1007/8904_2018_128
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发表时间：
2018-08
期刊：
影响因子：
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通讯作者：
B. Ng;H. Underhill;L. Palm;P. Bengtson;J. Rozet;S. Gerber;A. Munnich;X. Zanlonghi;C. Stevens
中科院分区：
文献类型：
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作者：
B. Ng;H. Underhill;L. Palm;P. Bengtson;J. Rozet;S. Gerber;A. Munnich;X. Zanlonghi;C. Stevens
DPAGT 1致病性突变导致一种罕见的先天性糖基化疾病，称为DPAGT 1-CDG，或者是一种仅伴有肌无力的轻度疾病，称为DPAGT 1-CMS。来自10个家族的28名患者中的14种致病突变先前已被报道导致系统性形式DPAGT 1-CDG。我们在这里报告了来自8个家庭的另外11例患者，并增加了10个新的突变。大多数患者具有非常严重的病程，其中常见的发现是明显的肌肉张力减退、难治性癫痫、全面发育迟缓/智力残疾和早期死亡。我们还提供了三名受影响的女性的数据，她们是年轻的成年人，病情较轻，病情稳定。我们的研究结果扩展了以前发表的数据的分子和临床知识，但也拓宽了DPAGT 1-CDG的表型谱。
Pathogenic mutations inDPAGT1cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.