Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome

被引：10

作者：

Khue Vu Nguyen ^{[1
,2
]}

Nyhan, William L. ^{[2
]}

机构：

[1] Univ Calif San Diego, Sch Med, Dept Med Biochem Genet & Metab, Mitochondrial & Metab Dis Ctr, San Diego, CA 92103 USA

[2] Univ Calif San Diego, Sch Med, Dept Pediat, San Diego, CA 92103 USA

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2016年 / 35卷 / 08期

关键词：

Lesch-Nyhan syndrome; HPRT1; gene; HGprt enzyme; HND; mutation; PCR; sequencing; epigenetics; epistasis; amyloid precursor protein; AMYLOID PRECURSOR PROTEIN; EPIGENETIC REGULATION; VOLUME ABNORMALITIES; DISEASE; PHOSPHORIBOSYLTRANSFERASE; DISORDER; DEFICIENCY; EPISTASIS; VARIANTS; MEMBERS;

D O I：

10.1080/15257770.2015.1098660

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.

引用

页码：426 / 434

页数：9

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