Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene

被引：2

作者：

Khue Vu Nguyen ^{[1
,2
]}

Nyhan, William L. ^{[2
]}

机构：

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

[2] Univ Calif San Diego, Sch Med, Dept Pediat, La Jolla, CA 92093 USA

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2015年 / 34卷 / 06期

关键词：

Lesch-Nyhan syndrome; SRS mechanism; HGprt enzyme; mutation; HPRT1; gene; GENOMIC DISORDERS; REARRANGEMENTS; DISEASE;

D O I：

10.1080/15257770.2015.1014492

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 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.

引用

页码：442 / 447

页数：6

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