Lesch-Nyhan综合征1例的基因突变分析  

Gene mutation analysis of a case of Lesch-Nyhan syndrome

作　　者：张小溪 孙文君 ZHANG Xiaoxi;SUN Wenjun(Tianyou Hospital Affiliated to Wuhan University of Science&Technology,Wuhan,Hubei 430064,China;Department of Endocrine Genetic Metabolism in Children,Maternal and Child Hospital of Hubei Province Tongji Medical College Huazhong University of Science and Technology,Wuhan,Hubei 430000,China)

机构地区：[1]武汉科技大学附属天佑医院泌尿外科,湖北武汉430064 [2]华中科技大学同济医学院附属湖北妇幼保健院儿科,湖北武汉430000

出　　处：《安徽医药》2023年第2期382-384,共3页Anhui Medical and Pharmaceutical Journal

摘　　要：目的探讨1例Lesch-Nyhan综合征病儿的临床表现及遗传学特点。方法回顾性分析2021年7月武汉科技大学附属天佑医院收治的1例以尿酸异常升高为主要表现的Lesch-Nyhan综合征病儿临床资料,结合其基因组测序结果,分析其遗传学特点。结果该病儿早期临床症状不典型,基因证实为Lesch-Nyhan综合征,突变位点为新发突变位点。结论该例Lesch-Nyhan综合征病儿的基因突变位点为新发突变位点,目前尚未见文献报道。Objective To investigate the clinical manifestations and genetic characteristics of a child with Lesch-Nyhan syndrome.Methods A retrospective analysis of the clinical data of a child with Lesch-Nyhan syndrome with abnormally elevated uric acid as the main manifestation admitted to Tianyou Hospital Affiliated to Wuhan University of Science&Technology in July 2021 was combined with the results of genome sequencing to analyze its genetic characteristics.Results The child with atypical early clinical symptoms had genetic confirmation of Lesch-Nyhan syndrome with a de novo mutation locus.Conclusion The mutated locus in this child with Lesch-Nyhan syndrome is a de novo mutated locus,which has not been reported in the literature.

关 键 词：Lesch-Nyhan综合征 次黄嘌呤磷酸核糖基转移酶(HPRT)基因 高尿酸血症 新发突变 

分 类 号：R725.9[医药卫生—儿科]