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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。
Objective To analyze the clinical, biochemical and gene mutation characteristics of 5 cases of glycogen storage disease (GSD) Ⅸc children. Methods The clinical data of 5 children with GSD Ⅸc were retrospectively analyzed. Gene sequencing was performed by targeted sequencing. The mutation of PHKG2 gene and its parents were confirmed by Sanger sequencing. Results All 5 cases showed obvious hepatomegaly and short stature, 4 cases had poor exercise endurance. All had fasting hypoglycemia, severe increase in liver enzymes and elevated blood triglycerides. Liver ultrasound showed no cirrhosis. Targeted sequencing found that 5 cases of children carrying PHKG2 homozygous or compound heterozygous pathogenicity or possible pathogenic mutations found one has been reported mutation p.E157K and five new mutations (p.E56X, p.R185X, c .79_88delins TCTGGTCG, c.761del C, p.R279C), p.E157K is a hot spot mutation (50%) in children. Conclusion The targeted sequencing is helpful to confirm the diagnosis of GSD Ⅸ c, p.E157K is a hot spot mutation.