| 张小溪,孙文君.Lesch-Nyhan综合征 1例的基因突变分析[J].安徽医药,2023,27(2):382-384. |
| Lesch-Nyhan综合征 1例的基因突变分析 |
| Gene mutation analysis of a case of Lesch-Nyhan syndrome |
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| DOI：10.3969/j.issn.1009-6469.2023.02.039 |
| 中文关键词: 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 |
| 英文关键词: Lesch-Nyhan syndrome Homo sapiens hypoxanthine phosphoribosyltransferase (HPRT) gene Hyperuricemia De novo mutation |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| 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 themain manifestation admitted to Tianyou Hospital Affiliated to Wuhan University of Science & Technology in July 2021 was combinedwith 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. |
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