一个家族中出现的伴有次黄嘌呤磷酸核糖基转移酶1（HPRT1）基因缺失后又发生插入的莱施-奈恩综合征。
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
作者信息
Nguyen Khue Vu, Nyhan William L
机构信息
a Department of Medicine, Biochemical Genetics and Metabolism , The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.
出版信息
Nucleosides Nucleotides Nucleic Acids. 2015;34(6):442-7. doi: 10.1080/15257770.2015.1014492.
Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase(HGprt) is defective. The authors report a novel mutation which led to LNS in a family with a deletion followed by an insertion (INDELS) via the serial replication slippage mechanism: c.428_432delTGCAGinsAGCAAA, p.Met143Lysfs*12 in exon 6 of HPRT1 gene. Molecular diagnosis discloses the genetic heterogeneity of HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
莱施-奈恩综合征（LNS）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。作者报告了一个新的突变，该突变通过串联复制滑动机制导致一个家族出现缺失后插入（INDELS）从而引发LNS：HPRT1基因第6外显子中的c.428_432delTGCAGinsAGCAAA，p.Met143Lysfs*12。分子诊断揭示了导致HGprt缺乏的HPRT1基因的遗传异质性。它有助于快速、准确地进行携带者检测和遗传咨询。
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