Abstract

Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.

中文翻译：

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早发性癫痫和发育性脑病和 MOGS 变异：全外显子组测序 (WES) ERA 的新诊断

摘要

甘露糖基低聚糖葡萄糖苷酶 – 先天性糖基化障碍 (MOGS-CDG) 是由甘露糖基低聚糖葡萄糖苷酶（葡萄糖苷酶 I）基因的双等位基因突变决定的。MOGS-CDG 是一种影响 N-聚糖（CDG II 型）加工的罕见疾病，其特征是显着的神经系统受累，包括肌张力减退、发育迟缓、癫痫发作和运动障碍。据我们所知，迄今为止已有 30 名 MOGS-CDG 患者发表。我们描述了一个MOGS基因中两个新变异的复合杂合子儿童。他在没有其他特定全身受累且未揭示一线生化结果的情况下提出了早期婴儿发育性和癫痫性脑病（EI-DEE）。除了之前描述的特征外，患者还出现了先天性巨结肠，这是 MOGS-CDG 患者以前从未报道过的疾病。