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
收藏
页码：498 / 501
页数：4
相关论文
共 50 条
  • [41] Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease)
    Bertelli, Matteo
    Cecchin, Stefano
    Lapucci, Cristina
    Jacomelli, Gabriella
    Jinnah, Hyder A.
    Pandolfo, Massimo
    Micheli, Vanna
    CLINICA CHIMICA ACTA, 2006, 373 (1-2) : 104 - 107
  • [42] THE GENETIC AND METABOLIC PROPERTIES OF LESCH-NYHAN LYMPHOBLASTS INFECTED WITH HPRT RETROVIRUS PARTICLES
    JOLLY, D
    MILLER, A
    CHANG, H
    WILLIS, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A175 - A175
  • [43] Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene
    Khue Vu Nguyen
    Nyhan, William L.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2015, 34 (06): : 442 - 447
  • [44] Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease
    Jian, Wei-Xia
    Peng, Wen-Hui
    Li, Hai-Ling
    Feng, Qi-Wen
    Wang, Wei-Xing
    Su, Qing
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2013, 32 (04): : 189 - 195
  • [45] MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
    Guibinga, Ghiabe-Henri
    Hrustanovic, Gorjan
    Bouic, Kathryn
    Jinnah, Hyder A.
    Friedmann, Theodore
    HUMAN MOLECULAR GENETICS, 2012, 21 (03) : 609 - 622
  • [46] Molecular analysis of HPRT1+ somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome
    Rivero, MB
    Olicio, R
    Lima, CR
    Bonvicino, CR
    Moreira, MAM
    Llerena, JC
    Seuánez, HN
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (01): : 48 - 55
  • [47] LESCH NYHAN SYNDROME AND HPRT VARIANTS - STUDY OF HETEROGENEITY AT THE GENE LEVEL
    SINGH, S
    WILLERS, I
    HELD, K
    GOEDDE, HW
    PEDIATRIC RESEARCH, 1988, 24 (01) : 135 - 135
  • [48] PRENATAL-DIAGNOSIS OF THE LESCH-NYHAN SYNDROME USING A FULL LENGTH CDNA PROBE FOR THE HPRT GENE
    GIBBS, DA
    HEADHOUSEBENSON, CM
    MCFADYEN, IR
    CRAWFURD, MDA
    WATTS, RWE
    CLINICAL SCIENCE, 1985, 69 : P26 - P26
  • [49] Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines
    Pinto, CS
    Jinnah, HA
    Shirley, TL
    Nyhan, WL
    Seifert, R
    JOURNAL OF NEUROCHEMISTRY, 2005, 93 (06) : 1579 - 1586
  • [50] Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family
    Liu, N.
    Zhuo, Z. -H.
    Wang, H. -L.
    Kong, X. -D.
    Shi, H. -R.
    Wu, Q. -H.
    Jiang, M.
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 35 (05) : 490 - 493
12345