5例糖原贮积症Ⅸc型患儿临床和PHKG2基因突变分析

发布时间：2018-06-26 06:10

本文选题：糖原贮积症Ⅸc型 + PHKG基因　；参考：《临床儿科杂志》2017年08期

【摘要】：目的分析5例糖原贮积症(GSD)Ⅸc型患儿的临床、生化及基因突变特点。方法回顾分析5例GSD Ⅸc型患儿的临床情况,并采用靶向测序技术进行基因分析,Sanger测序验证所发现的PHKG2基因突变及其父母来源。结果5例患儿均表现为明显肝大和矮小,4例有运动耐力差;均有空腹低血糖,肝酶中重度升高,血三酰甘油升高;肝脏超声示无肝硬化。靶向测序发现5例患儿均携带PHKG2基因纯合或复合杂合致病或可能致病突变,发现1种已报道突变p.E157K和5种新突变(p.E56X,p.R185X,c.79_88delins TCTGGTCG,c.761del C,p.R279C),p.E157K为患儿的热点突变(50%)。结论靶向测序有助于确诊GSD Ⅸc型,p.E157K为热点突变。
[Abstract]:Objective to analyze the clinical, biochemical and gene mutation characteristics of 5 cases of glycogen storage syndrome (GSD IX c). Methods the clinical data of 5 children with type GSD IX c were retrospectively analyzed. The mutation of PHKG2 gene and its parental origin were confirmed by gene analysis and Sanger sequencing with targeted sequencing technique. Results all of the 5 children showed obvious liver size and short megalomorphism with poor exercise endurance, fasting hypoglycemia, moderate and severe increase of liver enzyme, elevated serum triglyceride, and no liver cirrhosis. Five patients were found to be carrying homozygous or complex heterozygosity of PHKG2 gene or possible pathogenicity mutation. One reported mutation p. E157K and five new mutations (p. E56XG. 7988delins TCTGGTCGN c. 761del CU p.R279C) p. E157K were found as hot spot mutations (50%). Conclusion targeted sequencing is helpful in the diagnosis of GSD IX c type E. 157K as a hot spot mutation.
【作者单位】：上海交通大学医学院附属新华医院上海儿科医学研究所内分泌/遗传室;
【基金】：国家自然科学基金(No.81170811) 上海市卫生局基金(No.20134005) 国家重点研发计划精准医学研究专项(No.2016YFC0905100)
【分类号】：R725.8

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