先天性糖基化病COG5-CDG患者1例的临床及遗传学分析

Clinical and genetic features of a patient with COG5-CDG caused by COG5 gene variation

患者男,3岁8个月,面容异常,眼距过宽、鼻梁扁平,叫之反应差,语言运动发育落后,双手持握不协调,手指弯曲不能伸直。患者先天性近视,眼球震颤;牙齿易脱落。生殖系统异常表现为小阴茎及睾丸偏小。实验室生化检测肝肾功能未见明显异常,血清免疫球蛋白水平未见异常。脊柱X线片提示脊柱侧弯。头颅MRI提示小脑发育不良。高通量检测及Sanger测序验证发现患者COG5基因存在复合杂合变异,分别为遗传自母亲的c.1039C>T变异以及遗传自父亲的c.928+3A>G剪接位点变异;结合患者临床表型,患儿诊断为COG5基因异常所致的先天性糖基化病(COG5-CDG)。明确诊断以后,患者进行语言及运动相关的康复训练治疗,但治疗效果不明显。本研究报道了COG5-CDG并发现了2个COG5基因新变异,扩展了该基因的突变谱。

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.