Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease

被引：9

作者：

Khue Vu Nguyen ^{[1
,2
]}

Naviaux, Robert K. ^{[1
,2
,3
]}

Nyhan, William L. ^{[2
]}

机构：

[1] Univ Calif San Diego, Sch Med, Mitochondrial & Metab Dis Ctr, Dept Med Biochem Genet & Metab, Bldg CTF,Room C-103,214 Dickinson St, San Diego, CA 92103 USA

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

[3] Univ Calif San Diego, Sch Med, Dept Pathol, San Diego, CA 92103 USA

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2017年 / 36卷 / 11期

关键词：

Lesch-Nyhan disease; HPRT1; gene; HGprt enzyme; mutation; HND; epigenetics; epistasis; amyloid precursor protein; HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE; AMYLOID PRECURSOR PROTEIN; EPIGENETIC REGULATION; DEFICIENCY; DISORDER; PHENOTYPE;

D O I：

10.1080/15257770.2017.1395037

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 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 a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g. 34938G>T, c. 403G>T, p. D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.

引用

页码：704 / 711

页数：8

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