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目的糖原累积病Ib型(GSDIb)是由于SLC37A4基因突变引起葡萄糖-6-磷酸转移酶(G6PT)活性缺陷所致,该病患者大部分有反复感染及炎症性肠病的发生,预后较差。SLC37A4基因的检测对GSDIb患者的诊断、分型、预测患者的预后尤为重要。本文旨在研究糖原累积病Ib型患儿SLC37A4基因突变的情况,探讨基因型与临床表型的关系。方法应用聚合酶链反应直接测序的方法,对拟诊GSDIb型的28例患儿行SLC37A4基因外显子及其相邻区域的突变筛查。结果 7例患儿检测到SLC37A4基因突变,检出率为25%(7/28例),包括错义突变:p.Gly149Glu(9/13,69%)、p.Gly115Arg(1/13,8%)、p.Pro191Leu(1/13,8%);移码突变:c.959-960 insT(1/13,8%);剪接突变:c.870+5G>A(1/13,8%)。结论 c.959-960 insT为新突变,p.Gly149Glu为本研究最常见的突变,p.Gly149Glu突变可能与患儿的严重感染相关。
Purpose Glycogen accumulating disease type Ib (GSDIb) is caused by a defect in the activity of glucose-6-phosphotransferase (G6PT) caused by a mutation in the SLC37A4 gene. Most of the patients have recurrent infections and inflammatory bowel disease with poor prognosis . SLC37A4 gene detection in patients with GSDIb diagnosis, classification, prediction of prognosis of patients is particularly important. This article aims to investigate the mutation of SLC37A4 gene in type Ib glycogenosis patients and to explore the relationship between genotype and clinical phenotype. Methods 28 cases of children diagnosed with GSDIb type were screened for mutation of SLC37A4 exon and its adjacent region by polymerase chain reaction sequencing. Results The SLC37A4 gene mutation was detected in 7 cases. The detection rate was 25% (7/28 cases), including missense mutations: p.Gly149Glu (9/13, 69%), p.Gly115Arg ; P.Pro191Leu (1/13, 8%); frameshift mutation: c.959-960 insT (1/13, 8%); splicing mutation: c.870 + 5G> A %). Conclusion c.959-960 insT is a new mutation and p.Gly149Glu is the most common mutation in this study. The p.Gly149Glu mutation may be associated with severe infection in children.