Lesch-Nyhan综合征1例的基因突变分析

Gene mutation analysis of a case of Lesch-Nyhan syndrome

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.