Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile.
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Clin Genet. 2021 Sep;100(3):318-323. doi: 10.1111/cge.13980. Epub 2021 May 13.
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex encoded by eight genes, COG1-COG8. Pathogenic variants in all genes except the COG3 gene have been reported. COG1-CDG has been reported in five patients. We report a male with neonatal seizures, dysmorphism, hepatitis and a type 2 serum transferrin isoelectrofocusing. Exome sequencing identified a homozygous COG1 variant (NM_018714.3: c.2665dup: p.[Arg889Profs*12]), which has been reported previously in one patient. We review the reported patients.
先天性糖基化障碍 (CDG) 是一组糖蛋白和糖脂聚糖合成和连接中遗传缺陷的异质性疾病。CDG 的一个亚组是由八个基因 COG1-COG8 编码的保守寡聚高尔基体复合物的缺陷。除了 COG3 基因之外，所有基因的致病变异都有报道。COG1-CDG 已在五名患者中报道。我们报告了一名男性新生儿癫痫发作、畸形、肝炎和 2 型血清转铁蛋白等电聚焦。外显子组测序发现了一个纯合 COG1 变异（NM_018714.3: c.2665dup: p.[Arg889Profs*12]），之前在一名患者中报道过。我们回顾了报告的患者。
