Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

被引：11

作者：

Nguyen, Khue Vu ^{[1
,2
]}

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

Paik, Kacie K. ^{[1
]}

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：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 106卷 / 04期

关键词：

Lesch-Nyhan syndrome; HPRT; Mutation; PCR; Real-time RT-PCR; Sequencing; MUTATIONS;

D O I：

10.1016/j.ymgme.2012.06.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA. Published by Elsevier Inc.

引用

页码：498 / 501

页数：4

共 23 条

[21] A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome
Mizunuma, M
Fujimori, S
Ogino, H
Ueno, T
Inoue, H
Kamatani, N
HUMAN MUTATION, 2001, 18 (05) : 435 - 443
[22] Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
AlBakheet, Albandary
AlQudairy, Hanan
Alkhalifah, Joud
Almoaily, Sheikhah
Kaya, Namik
Rahbeeni, Zuhair
FRONTIERS IN GENETICS, 2023, 13
[23] Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine-phosphoribosyltransferase deficiency: A follow-up study of 18 Spanish patients
Torres, R. J.
Prior, C.
Puig, J. G.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2006, 25 (9-11) : 1077 - 1082

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