Clinical and genetic features of a patient with COG5-CDG caused by COG5 gene variation
10.3760/cma.j.cn114452-20220313-00146
- VernacularTitle:先天性糖基化病COG5-CDG患者1例的临床及遗传学分析
- Author:
Qingjie MENG
1
;
Peiwei ZHAO
;
Lei ZHANG
;
Yun XIANG
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院（武汉市妇幼保健院）检验科，武汉 430016
- Keywords:
Congenital disorders of glycosylation;
COG5 gene;
Mutation
- From:
Chinese Journal of Laboratory Medicine
2022;45(11):1182-1185
- CountryChina
- Language:Chinese
-
Abstract:
The patient in this study was a 3 years 8 month old boy. The patient presented with facial dysmorphism including wide eye distance and flat nose. The major clinical manifestations were poor response, backward language and motor development; and his fingers cannot be bent. Moreover, the patient′s hands were also uncoordinated. In addition the patient suffered from congenital myopia and nystagmus; and the teeth were fall off easily. The abnormal reproductive system was characterized by small penis and small testicle. No obvious abnormality was found in liver and kidney function and serum immunoglobulin level through laboratory biochemical test. The results of the spine X-Ray examination indicates scoliosis. Results from brain MRI showed cerebellar dysplasia. Compound heterozygous variants in COG5 gene (c.1039C>T and c.928+3A>G), each inheranted from his parents were found in this patient by high-throughput sequencing and Sanger sequencing. After a clear diagnosis, the patient received language rehabilitation training and motor rehabilitation training. In this study, we found two new variants in COG5 gene and increased the mutation spectrum of this gene.
