Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2024-03-18 DOI:10.1007/s10048-024-00754-y

引用次数: 0

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.

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

摘要甘露糖苷-寡糖葡萄糖苷酶-先天性糖基化紊乱（MOGS-CDG）是由甘露糖苷-寡糖葡萄糖苷酶（葡萄糖苷酶 I）基因的双倍突变决定的。MOGS-CDG 是一种影响 N-糖（CDG II 型）加工的罕见疾病，其特征是神经系统明显受累，包括肌张力低下、发育迟缓、癫痫发作和运动障碍。据我们所知，迄今为止已发表了 30 例 MOGS-CDG 患者。我们描述了一名因 MOGS 基因的两个新变体而患有复合杂合子的儿童。他表现为早期婴幼儿发育性癫痫脑病（EI-DEE），没有其他特异性系统受累，一线生化检查结果也未揭示。除了之前描述的特征外，该患者还出现了赫氏病（Hirschprung disease），这是以前从未在 MOGS-CDG 患者中报道过的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.