GENE ALTERATIONS LEADING TO HYPOXANTHINE- GUANINEPHOSPHORIBOSYL TRANSFERASE DEFICIENCY: GENOTYPE-PHENOTYPE CORRELATION
Neychev VK*, Krastev SR, Mitev VI
*Corresponding Author: Dr. Vladimir K. Neychev: Department of Chemistry and Biochemistry, Medical University, 2 Zdrave str., Sofia 1431, Bulgaria; Tel: +359-889-49-51-25 (personal), +359-2-51-66-528 (office); Fax: +3592-952-02-07; E-mail: Neychev@dir.bg
page: 51

Abstract

The hypoxanthine-guanine phosphoribosy transferase (HPRT) deficiency is an X-linked recessive disorder in­volving the purine salvage system. The alterations in the HPRT gene that lead to the disease are varied and are represented by point mutations, insertions, deletions and errors in RNA splicing. Symptoms of the disease are usu­ally divided into two syndromes, depending on the resid­ual activity of the enzyme. Partial deficiency of HPRT, corres­ponding to the Kelley-Seegmiller syndrome (KSS), consists of hyperuricemia, gouty arthritis, uricolithiasis with follow­ing nephropathy. Complete deficiency, the Lesch-Nyhan syndrome (LNS), which, besides the above symptoms, includes self-mutilation and profound neuro­logical dysfunction, that confines the victims to a wheel­chair at an early age. A third group of partially HPRT deficient patients have mild to severe neurological symp­toms without self-mutilation. We have used the newest and most exact classification, that groups patients into four types, in an attempt to correlate more precisely the clinical variants of the HPRT deficiency with their gene alter­ations.

Key words: Gene alterations, hypoxanthine-guanine phosphoribosy transerase (HPRT), Kelley-Seegmiller syndrome (KSS), Lesch-Nyhan syndrome (LNS), pheno-type-genotype correlation of HPRT deficiency




Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006