一个糖原累积症Ⅲa型家系的临床特点及AGL基因突变分析  

Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type Ⅲ a

作　　者：郭丽[1] 林伟霞[1] 张占会[1] 赵新景[1] 张穗[1] 蔡香然[2] 周清[3] 宋元宗[1] 

机构地区：[1]暨南大学附属第一医院儿科,广州510630 [2]暨南大学附属第一医院影像科,广州510630 [3]暨南大学附属第一医院眼科,广州510630

出　　处：《中华医学遗传学杂志》2015年第4期502-505,共4页Chinese Journal of Medical Genetics

基　　金：暨南大学附属第一医院科研培育基金（2014208）

摘　　要：目的探讨一个糖原累积症Ⅲa型家系的临床及AGL基因突变的特点。方法收集患儿的诊断、治疗和随访资料，分析其临床特点。提取患儿及其父母外周血DNA，用聚合酶链式反应扩增AGL基因的全部外显子及侧翼序列，通过直接测序寻找致病突变。结果AGL基因型为c．3710—3711delTA／IVSl4＋IG〉T，前者为来自于母亲，尚未见于报道；后者为来自于父亲的剪接位点突变。结论综合其临床及分子生物学特点，该患儿被诊断为糖原累积症Ⅲa型合并球后视神经炎。Objective To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type Ⅲ a （GSD Ⅲ a）. Methods Clinical data for diagnosis, treatment and follow-up of a sick child with GSD Ⅲ was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene. Results The genotype of the child was found to be c. 3710_3711delTA/IVS14＋1G〉T. The former was a maternallyqnherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father. Conclusion Based on its clinical and molecular evidences, the patient was diagnosed as GSD HI a in conjunction with retrobular optic neuritis.

关 键 词：糖原累积症 糖原脱支酶 AGL基因 突变 复合杂合子 球后视神经炎 

分 类 号：R733.72[医药卫生—肿瘤]