GM1神经节苷脂贮积症患儿的GLB1基因突变研究  

Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis

作　　者：高敏 金瑞峰 张开慧 李志毅 盖中涛 刘毅 Gao Min;Jin Ruifeng;Zhang Kaihui;Li Zhiyi;Gai Zhongtao;Liu Yi(Institute of Pediatric Research,Qzlu Children's Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Neurological Endocrinology,Qilu Children's Hospital of Shandong University,Jinan,Shandong 250022,China)

机构地区：[1]山东大学齐鲁儿童医院儿科研究所,济南250022 [2]山东大学齐鲁儿童医院神经内分泌科,济南250022

出　　处：《中华医学遗传学杂志》2019年第2期128-131,共4页Chinese Journal of Medical Genetics

基　　金：山东省卫生厅科技项目(2013WSA01016);山东省自然科学基金培养基金(ZR2014HP051).

摘　　要：目的 明确1例疑似因遗传代谢病引起的发育倒退的患儿的遗传学病因。 方法 对1例1岁3个月无明显诱因发育进行性倒退患儿进行临床和实验室检查,并抽取患儿及其父母的外周静脉血,应用新一代目标区域捕获测序技术对患儿进行遗传代谢病相关基因的检测,对可疑突变位点进行患儿及其父母的Sanger测序验证。 结果 患儿头颅MRI提示髓鞘化迟缓,基因检测示GLB1基因存在c.2006-2007insT和c.475-476 insGGTCC突变,分别来源于其父母。 结论 GLB1基因的c.2006-2007insT和c.475-476 insGGTCC复合杂合突变可能是本例患儿的致病原因,该突变可能引起GM1神经节苷脂贮积症,进而导致患儿发育倒退的症状。Objective To explore the genetic cause for a child with growth retardation by next generation sequencing (NGS).Methods Clinical data of the patient was collected. Peripheral venous blood samples were taken from the neonate and his parents. Targeted capturing and NGS were carried out to detect mutations of genes associated with inborn errors of metabolism. Suspected mutations were validated by Sanger sequencing.Results The 15-month-old female patient was admitted to hospital for growth retardation for 4 months. Hypomyelination was found upon cranium MRI. Genetic testing revealed two novel insertional mutations in the GLB1 gene in the patient, namely c. 2006-2007insT and c. 475-476 insGGTCC.Conclusion The c. 2006-2007insT and c. 475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child.

关 键 词：GM1神经节苷脂贮积症 发育倒退 GLB1基因 

分 类 号：R725.8[医药卫生—儿科]