Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 70-76

  Yamada, Yasukazu ^a   Nomura, Noriko ^a   Yamada, Kenichiro ^a   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

Gout; HPRT; Hyperuricemia; Kelley Seegmiller syndrome; Lesch Nyhan syndrome; Mutation

Indexed keywords

AMINO ACID; GENOMIC DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA;

ARTICLE; ASIAN; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; DNA SPLICING; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION SEQUENCE; GENE MUTATION; GOUT; HUMAN; HYPERURICEMIA; INTRON; LESCH NYHAN SYNDROME; MISSENSE MUTATION; MOLECULAR MECHANICS; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASIA; BASE SEQUENCE; FEMALE; GOUT; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION, MISSENSE; SEQUENCE DELETION;

EID: 33845198443     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.013     Document Type: Article

References (34)

1. Lesch M., and Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36 (1964) 561-570
2. Seegmiller J.E., Rosenbloom F.M., and Kelley W.N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155 (1967) 1682-1684
3. Kelley W.N., Rosenbloom F.M., Henderson H.E., and Seegmiller J.E. A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Natl. Acad. Sci. USA 57 (1967) 1735-1739
4. Jinnah H.A., DeGregorio L., Harris J.C., Nyhan W.L., and O'Neill J.P. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat. Res. 463 (2000) 309-326
5. Jinnah H.A., Harris J.C., Nyhan W.L., and O'Neill J.P. The spectrum of mutations causing HPRT deficiency: an update. Nucleo. Nucleot. Nucl. 23 (2004) 1153-1160
6. Patel P.I., Framson P.E., Caskey C.T., and Chinault A.C. Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol. Cell Biol. 6 (1986) 393-403
7. Jolly D.J., Okayama H., Berg P., Esty A.C., Filpula D., Bohlen P., Johnson G.G., Shively J.E., Hunkapiller T., and Friedmann T. Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyltransferase. Proc. Natl. Acad. Sci. USA 80 (1983) 477-481
8. Edwards A., Voss H., Rice P., Civitello A., Stegemann J., Schwager C., Zimmermann J., Erfle H., Caskey C.T., and Ansorge W. Automated DNA sequencing of the human HPRT locus. Genomics 6 (1990) 593-608
9. Yamada Y., Goto H., Suzumori K., Adachi R., and Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for HPRT deficiency. Hum. Genet. 90 (1992) 379-384
10. Yamada Y., Goto H., and Ogasawara N. Identification of two independent Japanese mutant HPRT genes using the PCR technique. Adv. Exp. Med. Biol. 309 (1992) 121-124
11. Keio). Jpn J. Hum. Genet. 38 (1993) 413-419
12. Choi Y., Koo J.W., Ha I.S., Yamada Y., Goto H., and Ogasawara N. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in two Korean siblings-a new mutation. Pediatr. Nephrol. 7 (1993) 739-740
13. Yamada Y., Suzumori K., Tanemura M., Goto H., and Ogasawara N. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis. Clin. Genet. 50 (1996) 164-167
14. Osaka). Jpn J. Hum. Genet. 41 (1996) 427-430
15. Kim K.J., Yamada Y., Suzumori K., Choi Y., Yang S.W., Cheong H.I., Hwang Y.S., Goto H., and Ogasawara N. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. J. Korean Med. Sci. 12 (1997) 332-339
16. Yamada Y., Nomura N., Kitoh H., Wakamatsu N., and Ogasawara N. Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese. Adv. Exp. Med. Biol. 486 (2000) 29-33
17. Machida J., Yamada Y., Ogasawara N., Kaetsu A., and Yamamoto T. Lesch-Nyhan syndrome: case report and genetic study of one Japanese family. Asian J. Oral Maxillofac. Surg. 13 (2001) 111-115
18. Yamada Y., Yamada K., Sonta S., Wakamatsu N., and Ogasawara N. Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. Nucleo. Nucleot. Nucl. 23 (2004) 1169-1172
19. Mizunuma M., Yamada Y., Yamada K., Sonta S., Wakamatsu N., Kaneko K., Ogasawara N., and Fujimori S. Disruption in the hypoxanthine phosphoribosyltransferase gene caused by translocation in a patient with Lesch-Nyhan syndrome. Nucleosides Nucleotides Nucleic Acids 23 (2004) 1173-1176
20. Gibbs R.A., Nguyen P.-N., Edwards A., Civitello A.B., and Caskey C.T. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 7 (1989) 235-244
21. Hakota M., Hirai Y., Akiyama M., Yamanaka H., Terai C., Kamatani N., and Kashiwazaki S. Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells. Hum. Genet. 96 (1995) 674-680
22. Igarashi N., Yamada Y., and Kamatani N. Comparison of the analyses to diagnose the carrier of the mutation in a Lesch-Nyhan family (Japanese). Jpn J. Pediatr. 57 (2004) 949-952
23. Fujimori S., Tagaya T., Yamaoka N., Saito H., Kamatani N., and Akaoka I. Direct evidence for a hot spot of germline mutation at HPRT locus. Adv. Exp. Med. Biol. 370 (1994) 679-682
24. Yamada Y., Goto H., Suzumori K., and Ogasawara N. Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome. Adv. Exp. Med. Biol. 431 (1998) 211-214
25. Sege-Peterson K., Crambers J., Page T., Jones O.W., and Nyhan W.L. Characterization of mutations in phenotype variants of hypoxanthine phosphoribosyltransferase deficiency. Hum. Mol. Genet. 1 (1992) 427-432
26. Marcus S., Christensen E., and Malm G. Molecular analysis of the mutation in five unrelated patients with the Lesch-Nyhan syndrome. Hum. Mutat. 2 (1993) 473-477
27. Ogasawara N., Stout J.T., Goto H., Sonta S., Matsumoto A., and Caskey C.T. Molecular analysis of a female Lesch-Nyhan patient. J. Clin. Invest. 84 (1989) 1024-1027
28. Ogasawara N., Yamada Y., and Goto H. HPRT gene mutations of a female Lesch-Nyhan patient. Adv. Exp. Med. Biol. 309B (1992) 109-112
29. Yamada Y., Goto H., Yukawa T., Akazawa H., and Ogasawara N. Molecular mechanisms of the second female Lesch-Nyhan patient. Adv. Exp. Med. Biol. 370 (1995) 337-340
30. Aral B., Basile G.S., Al-Grawi S., Kamoun P., and 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. 7 (1996) 52-58
31. DeGregorio L., Nyhan W.L., Serafin E., and Chamoles N.A. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol. Genet. Metab. 69 (2000) 263-268
32. DeGregorio L., Jinnah H.A., Harris J.C., Nyhan W.L., Schretlen D.J., Trombley L.M., and O'Neill J.P. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol. Genet. Metab. 85 (2005) 70-77
33. Rinat C., Zorif-Shani E., Ben-Neriah Z., Bromberg Y., Becker-Cohen R., Feinstein S., Sperling O., and Frishberg Y. Molecular, biochemical and genetic characterization of a female patient with Lesch-Nyhan disease. Mol. Genet. Metab. 87 (2006) 249-252
34. Inokuchi T., Moriwaki Y., Takahashi S., Tsutsumi Z., Ka T., Yamamoto A., Cheng J., Hashimoto-Tamaoki T., Hada T., and Yamamoto T. Identification of a new point mutation in hypoxanthine phosphoribosyltransferase responsible for hyperuricemia in a female patient. Metabolism 53 (2004) 1500-1502