一例黏多糖贮积症Ⅱ型患儿的临床特点及IDS基因变异分析  

Clinical characteristics and analysis of IDS gene variant in a child with mucopolysaccharidosis typeⅡ

作　　者：林艳 尹晓娜 雷海艳 张岩 张占会[3] 李冰肖[1] Lin Yan;Yin Xiaona;Lei Haiyan;Zhang Yan;Zhang Zhanhui;Li Bingxiao(Department of Pediatrics,the First Affiliated Hospital of Jinan University,Guangzhou,Guangdong 510630,China;Department of Child Healthcare,Longhua District Maternal and Child Health Hospital,Shenzhen,Guangdong 518109,China;Clinical Medicine Research Institute of Jinan University,Guangzhou,Guangdong 510630,China)

机构地区：[1]暨南大学附属第一医院儿科,广州510630 [2]深圳市龙华区妇幼保健院儿童保健科,深圳518109 [3]暨南大学临床医学研究院,广州510630

出　　处：《中华医学遗传学杂志》2022年第6期602-606,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81670813)。

摘　　要：目的总结1例罕见的黏多糖贮积症Ⅱ型(mucopolysaccharidosis typeⅡ,MPSⅡ)患儿的临床特点及基因检测结果。方法分析患儿的临床特点、酶学、相关代谢产物及家系IDS基因变异检测的结果。结果患儿表现为全面发育迟缓、粗犷面容、反复呼吸道感染、听力下降、腹股沟斜疝、肝脾肿大、骨骼畸形等。尿黏多糖明显升高,尿硫酸皮肤素阳性,白细胞IDS酶活性显著降低。基因检测提示患儿携带IDS基因c.676C>G变异,遗传自母亲。结论患者被确诊为MPSⅡ,IDS基因c.676G为其致病变异,既往未见报道。基因分析结合酶学分析是MPS诊断分型的有效方法。Objective To summarize the clinical features,laboratory examination and genetic analysis of a patient with mucopolysaccharidosis typeⅡ(MPSⅡ).Methods Clinical manifestations,results of urine glycosaminoglycans(GAGs)and dermatan sulfate assay,metabolites related to MPS in peripheral blood leukocytes were analyzed.Meanwhile,the child and his mother were subjected to next-generation sequencing and Sanger sequencing.Results The boy has presented with global development delay,coarse facies,frequent upper-respiratory infections,hearing loss,indirect inguinal hernia,hepatosplenomegaly,and skeletal deformities.His urine GAGs were significantly elevated,and the urinary dermatan sulfate(DS)was positive.Meanwhile,the activity of idose-2-sulfatase was extremely reduced.The patient was found to harbor a hemizygote c.676C>G(p.His226Asp)missense variant in exon 5 of IDS gene,for which his mother was heterozygous.Conclusion The novel c.676C>G variant of the IDS gene probably underlay the MPSⅡin this child.Genetic testing combined with enzymatic analysis can enable effective diagnosis and classification of MPS.

关 键 词：黏多糖贮积症Ⅱ型 IDS基因 酶学分析 致病变异 

分 类 号：R725.8[医药卫生—儿科]