Nguyen Khue Vu, Silva Sebastian, Troncoso Monica, Naviaux Robert K, Nyhan William L
a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.
b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.
Nucleosides Nucleotides Nucleic Acids. 2017 Jul 3;36(7):452-462. doi: 10.1080/15257770.2017.1315434. Epub 2017 May 19.
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families. Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
莱施-奈恩综合征（LND）是一种罕见的X连锁遗传性嘌呤代谢神经遗传疾病，其中次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGprt）存在缺陷。作者报告了两个导致剪接错误的独立点突变：次黄嘌呤磷酸核糖转移酶1（HPRT1）基因中的IVS 2 +1G>A，c.134 +1G>A和IVS 3 +1G>A，c.318 +1G>A，这分别导致来自奇洛埃岛两个家族不同成员的HGprt酶蛋白中第2外显子和第3外显子缺失。分子分析揭示了导致HGprt缺乏的HPRT1基因突变的异质性。这使得快速、准确的携带者检测和遗传咨询成为可能。
