Xp21临近基因缺失综合征6例临床和遗传学研究  

Clinical research and genetic analysis of six cases of Xp21 contiguous gene deletion syndrome

作　　者：王旭[1] 吴迪[2] 方方[1] 姜敏[3] 

机构地区：[1]首都医科大学附属北京儿童医院神经内科,北京100045 [2]首都医科大学附属北京儿童医院内分泌科,北京100045 [3]首都医科大学附属北京儿童医院新生儿中心,北京100045

出　　处：《中国实用儿科杂志》2015年第7期535-539,共5页Chinese Journal of Practical Pediatrics

基　　金：首都卫生发展科研专项重点攻关项目(首发2014-1-4091)

摘　　要：目的总结Xp21临近基因缺失综合征的临床表征和分子遗传学特点。方法回顾2012年7月至2015年1月首都医科大学附属北京儿童医院住院及门诊6例Xp21临近基因缺失综合征患儿临床表征、辅助检查结果,应用外显子捕获技术结合下一代高通量测序法(NGS)确定基因缺失的范围。结果 6例患儿均为男性,新生儿期即出现症状,由于受累区域基因缺失片段大小不同,致使以先天性肾上腺皮质功能不全、甘油尿症及杜氏型肌营养不良为典型表现的该综合征临床症候群也不尽相同。6例患儿均以进行性皮肤色素沉着起病,尿代谢筛查显示甘油显著升高,促肾上腺皮质激素显著升高,以及磷酸肌酸激酶显著升高。结论 NGS技术明确X染色体Xp21区域缺失范围,明确致病基因,为临床难以确诊的Xp21临近基因缺乏综合征提供了新的诊断思路和方法。Objective To summarize the clinical characterization and the molecular genetics analysis of the Xp21 con- tiguous gene deletion syndrome. Methods Review clinical phenotypic signs and examination results of 6 cases of Xp21 contiguous gene deletion syndrome, and by exon trapping technique combined with a new next generation of high- throughput sequencing method （NGS） we determined the scope of gene deletion. Results The cases reported were male, due to lack of fragment gene in Xp21 area, congenital adrenal insufficiency, glycerin urine and Duchenne muscu- lar dystrophy and other clinical manifestations were slightly different. Six cases were with skin pigmentation at onset ; uri- nary metabolic screening showed glycerin increased significantly, adrenocorticotropic hormone increased significantly, and the creative kinase increased significantly. Conclusion NGS technology can make clear the extent of chromosome Xp21 deletion, find out the definite pathogenic gene for children, and provide a new idea and method for clinical diagno- sis of difficult cases.

关 键 词：下一代高通量测序法 Xp21临近基因缺失综合征 先天性肾上腺皮质功能不全 甘油激酶缺乏症 杜氏型进行性肌营养不良 

分 类 号：R72[医药卫生—儿科]