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: +359–2-952-02-07; E-mail: Neychev@dir.bg
page: 51

REFERENCES

Table 4. Deletions.

 

 

 

Table 5. Insertions

 

 

1. Jinnah H, Fridmann T. Lesch-Nyhan disease and its variants. In: Scriver C, Beaudet A, Sly W, Valle D, (eds.). The Metabolic & Molecular Bases of Inherited Disease, Vol. II, 8th edition. New York: McGraw-Hill, 2001; 2357.

2. Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buno AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001; 80(2): 102-112.

3. Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase defi­ciency. Hum Mol Genet 1992; 1: 427-432.

4. Marcus S, Christensen E, Malm G. Molecular anal­ysis of the mutations in five unrelated patients with Lesch-Nyhan syndrome. Hum Mutat 1993; 2: 473-477.

5. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O’Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 pre­viously reported cases.. Mutat Res 2000; 463(3): 309-326.

6. Burgemeister R, Gutensohn W, Van der Berghe G, Jaeken J.: Genetic and clinical heterogeneity in hypox­anthine phosphoribosyltransferase deficiencies. Adv Exp Med Biol 1994; 370: 331-335.

7. Torres RJ, Mateos FA, Molano J, Gathoff BS, O’Neill JP, Gundel RM, Trommbley L, Puig JG. Molecu­lar basis of hypoxanthine-guanine phosphoribosyltrans­ferase deficiency in thirteen Spanish families. Hum Mutat 2000; 15(4): 283.

8. Gibbs RA, Nguyen PN, McBride IJ, Koepf SM, Caskey CT. Identification of mutations leading to Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci USA 1989; 86: 1919-1923.

9. Tarle SA, Davidson BL, Wu VC, Zidar FJ, Seeg­miller JE, Kelley WN, Palella TD. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics 1991; 10: 499-501.

10. Davidson BL, Tarle SA, van Antwerp M, Gibbs RA, Watts RWE, Kelley WN, Palella TD. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Am J Hum Genet 1991; 48: 951-958.

11. Davidson BL, Golovoy N, Roessler BJ. A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon. Hum Genet 1994; 93(32): 300-304.

12. Igarashi T, Minami M, Nishada Y. Molecular analysis of hypoxanthine-guanine phosphoribosyltrans­ferase mutations in five unrelated Japanese patients. Acta Paediatr Jpn Overseas Ed 1989; 31: 303-313.

13. Snyder F, Chudley AE, McLeod PM, Carter RJ, Fung E, Lowe JK. Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout. Hum Genet 1984; 67: 18-22.

14. Lightfoot T, Lewkonia RM, Snyder FF. Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. Hum Mol Genet 1994; 3(8): 1377-1381.

15. Gariello NF, Scott JK, Kat AG, Thilly WG, Keo­havong T. Resolution of a missense mutation in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRTMunich. Am J Hum Genet 1988; 42: 726-732.

16. Skopek TR, Recio L, Simpson D, Dallaire L, Melancon SB, Ogier H, O’Neill JP, Falta MT, Nicklas JA, Albertini RJ. Molecular analisis of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphcyte cultures. Hum Genet 1990; 85: 111-116.

17. Fujimori S, Davidson BL, Kelley WN, Palella TD. Identification of single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. J Clin Invest 1989; 83: 11-13.

18. Davidson BL, Tarle SA, Palella TD, Kelley WN. Molecular basis of hypoxanthine-guanine phosphoribosyl­transferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J Clin Invest 1989; 84: 342-346.

19. Wilson JM, Tarr JE, Kelley WN. Human hypox­anthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci USA 1983; 80: 870-879.

20. Davidson BL, Chin SJ, Wilson JM, Kelley WN, Palella TD. Hypoxanthine-guanine phosphoribosyltrans­ferase. Genetic evidence for identical mutations in two partially deficient subjects. J Clin Invest 1988; 82: 2164-2167.

21. Gordon RB, Sculley DJ, Dawson PA, Beacham IR, Emmerson BT. Identification of single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisban). J Inherit Metab Dis 1990; 13: 692-700.

22. Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN. Identification of single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyl­transferase (HPRTAnnArbor). Hum Genet 1988; 79: 39-43.

23. Davidson BL, Palella TD, Kelley WN. Human hypoxanthine-guanine phosphoribosyltransferase. A single nucleotide substitution in cDNA clones isolated from patient with Lesch-Nyhan syndrome (HPRTMidland). Gene 1988; 68: 85-91.

24. Hunter TC, Melancon CB, Dalaire I, Tafat C, Skopek TR, Albertini RJ, O’Neill JP. Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures. Somat Cell Mol Genet 1996; 22: 145-150.

25. Sculley DG, Dawson PA, Beacham IR, Emmerson BT, Gordon RB. Hypoxanthine-guanine phosphoribosyl­transferase deficiency: Analysis of HPRT mutations by direct sequencing and allele-specific amplification. Hum Genet 1991; 87: 688-692.

26. Tohyama J, Nanba E, Ohno K. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line. Hum Genet 1994; 93(2): 175-181.

27. Davidson BL, Pashmforoush M, Kelley WN, Palella TD. Genetic basis of hypoxanthine-guanine phos­phoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint). Gene 1988; 63(2): 331-336.

28. Lightfoot T, Joshi R, Nuki G, Snyder FF. The point mutation of hypoxanthine-guanine phosphoribosyl­transferase (HPRT-Edinburgh) and detection by allele-specific polymerase chain reaction. Hum Genet 1992; 88: 695-696.

29. Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I. Novel nonsense mutation in the hy­poxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. Hum Mutat 1996; 7(1): 52-58.

30. Yamada Y, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasavara N. A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT Osaka). Jpn J Hum Genet 1996; 41(4): 427-430.

31. Srivastava T, O’Neill JP, Dasouki M, Simckes AM. Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am J Med Genet 2002; 108(3): 219-222.

32. Maruta K, Ohi T, Yamada Y, Goto H, Ogasavara N, Matsukura S. A Japanese family with Lesch-Nyhan syndrome resulting from a new mutation in hypoxanthine-guanine phosphoribosyltransferase gene. No To Shinkei 1997; 49(11): 1009-1013.

33. Bouwens-Rombouts AG, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG. Identi­fication of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. Hum Genet 1993; 91(5): 451-454.

34. Zoref-Shani E, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O. A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate bind­ing motif of hypoxanthine-guanine phosphoribosyltrans­ferase (HPRTJerusalem) in a variant of Lesch-Nyhan syn­drome. Mol Genet Metab 2003, 78(2): 158-161.

35. Fujimori S, Tagaya T, Yamaoka N, Kamatani N, Akaoka I.: Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients. Adv Exp Med Biol 1991; 309B: 101-104.

36. Micheli V, Gathof BS, Rocchigiani M, Jacomelli G, Sestini S, Peruzzi L, Notarantonio L, Cerboni B, Hayek G, Pompucci G. Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Biochim Biophys Acta 2002; 1587(1): 45-52.

37. Yamada Y, Goto H, Ogasavara N. Identification of two independent Japanese mutant HPRT genes using PCR technique. Adv Exp Med Biol 91; 309B: 121-124.

38. O'Neill P, Trombley L, Gundel M, Hunter T, Nicklas JA, Ferreira ML, Bugallo MJ, Farias AC, Lohr A, Diamantopoulos M, Raskin S. Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and anal­ysis of potentially heterozygous females. Arg. Neuro­psiquiatric 1999; 57(4): 907-911.

39. Davidson BL, Pashmforoush M, Kelley WN, Palella TD. Humanhypoxanthine-guanine phosphoribosyl­transferase deficiency. The mplecular defect in a patient with gout (HPRTAshville). J Biol Chem 1989; 264(1): 520-525.

40. Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT. Multiplex DNA deletions detection and exon sequencing of the hypoxanthine-guanine phosphoribosyl­transferase gene in Lesch-Nyhan families. Genomics 1990; 7: 235-244.

41. Fujimori S, Kamatani N, Nishida Y, Ogasavara N, Akaoka I. Hypoxanthine-guanine phosphoribosyltrans­ferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japa­nese. Hum Genet 1990; 84(5): 483-486.

42. Wilson JM, Kobayashi R, Fox IH, Kelley WN. Human hypoxanthine-guanine phosphoribosyltransferase. Molecular abnormalities in a mutant form of the enzyme (HPRTToronto). J Biol Chem 1983; 258: 6458-6460.

43. Chang SJ, Chang JG, Chen CJ, Wang JC, Ou TT, Chang KL, Ko YC. Identification of a new single nucleo­tide substitution on the hypoxanthine-guanine phosphori­bosyltransferase gene (HPRT (Tsou)) from a Taiwanese aboriginal family with severe gout. J Rheumatol 1999; 26(8): 1802-1807.

44. Kim KJ, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N. Mo­lecular analysis of hypoxanthine guanine phosphoribosyl­transferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. J Korean Med Sci 1997; 12: 332-339.

 




Number 23
VOL. 23, 2020 Acepted articles
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
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