PLA2G6基因纯合突变致婴儿神经轴索营养不良一例  

A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case

作　　者：王金玲[1] 吴蔚[1] 陈雪峰[1] 张黎[1] 王秀敏[1] 董关萍[1] 

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,杭州310003

出　　处：《中华医学遗传学杂志》2016年第1期64-67,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81100848）

摘　　要：目的对1例临床诊断为婴儿神经轴索营养不良的患儿的临床特点及PLA2G6基因序列进行分析。方法收集患儿的临床资料，采集患儿及其父母的外周血DNA，用直接测序法分析PLA2G6基因的潜在突变。结果患儿表现为进行性智力、运动功能倒退，肌张力下降。基因测序显示PLA2G6基因纯合突变G68A（Arg23Gln），其父母该位点均为杂合突变。结论该患儿神经轴索营养不良的病因为PLA2G6基因纯合突变G68A（Arg23Gln）。Objective To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy. Methods Clinical data of the patient was collected. The coding regions of PLA2G6 gene was subjected to Sanger sequencing using blood DNA from the patient and her parents. Results The patient has presented with psychomotor regression and hypotonia, followed by development of tetraparesis. A novel homozygous mutation G68A in the PLA2G6 gene was found by DNA sequencing, while her parents were both heterozygous carriers. Conclusion The psychomotor regression and tetraparesis of the patient was caused by infantile neuroaxonal dystrophy due to a novel homozygous mutation in the PLA2G6 gene, which was inherited from her parents.

关 键 词：婴儿神经轴索营养不良 PLA2G6基因 突变 

分 类 号：R725.9[医药卫生—儿科]