Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Keeratichamroen, S ^a   Cairns, J R Ketudat ^a,b   Wattanasirichaigoon, D ^c   Wasant, P ^c   Ngiwsara, L ^a   Suwannarat, P ^c   Pangkanon, S ^d   Kuptanon, J ^c   Tanpaiboon, P ^e   Rujirawat, T ^c   Liammongkolkul, S ^c   Svasti, J ^a,f  

^a Krung Thep Maha Nakhon   (Thailand)

^b SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^c MAHIDOL UNIVERSITY   (Thailand)

^d QUEEN SIRIKIT NATIONAL INSTITUTE OF CHILD HEALTH   (Thailand)

^e CHIANG MAI UNIVERSITY   (Thailand)

^f Mahidol University   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; IDS PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ANIMAL; ARTICLE; ASIAN; CASE CONTROL STUDY; CELL STRAIN COS1; CERCOPITHECUS; CHILD; ENZYMOLOGY; ETHNOLOGY; GENE DELETION; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC TRANSFECTION; GENETICS; HEMIZYGOTE; HOSPITALIZATION; HUMAN; HUNTER SYNDROME; METABOLISM; METHODOLOGY; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; STOP CODON; THAILAND;

ALTERNATIVE SPLICING; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COS CELLS; DNA MUTATIONAL ANALYSIS; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GLYCOPROTEINS; HEMIZYGOTE; HUMANS; MUCOPOLYSACCHARIDOSIS II; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; THAILAND; TRANSFECTION;

EID: 84855585793     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0876-z     Document Type: Article

References (29)

1. Alves S, Mangas M, Prata MJ, et al (2006) Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. J Inherit Metab Dis 29:743-754.
2. Bondeson ML, Malmgren H, Dahl N, Carlberg BM, Pettersson U. (1995a) Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur J Hum Genet 3:219-227.
3. Bondeson ML, Dahl N, Malmgren H, et al (1995b) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615-621.
4. Bunge S, Steglich C, Beck M, et al (1992) Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1:335-339.
5. Chang JH, Lin SP, Lin SC, et al (2005) Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum Genet 116:160-166.
6. Dou W, Peng C, Zheng JK, Gu XF (2007) Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II. Hereditas (China) 29:37-40.
7. Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R (2001) Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. Hum Mutat 18:164-165.
8. Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F (1993) Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 2:5-10.
9. Froissart R, Maire I, Millat G, et al (1998) Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet 53:362-368.
10. Hopwood JJ, Bunge S, Morris CP, et al (1993) Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 2:435-442.
11. Isogai K, Sukegawa K, Tomatsu S, et al (1998) Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis 21:60-70.
12. Kato T, Kato Z, Kuratsubo I, et al (2005) Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J Hum Genet 50:395-402.
13. Kim CH, Hwang HZ, Song SM, et al (2003) Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations. Hum Mutat 21:449-450.
14. Lissens W, Seneca S, Liebaers I (1997) Molecular analysis in 23 Hunter disease families. J Inherit Metab Dis 20:453-456.
15. Lualdi S, Regis S, Di Rocco M, et al (2005) Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method. Hum Mutat 25:491-497.
16. Lualdi S, Pittis MG, Regis S, et al (2006) Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. J Mol Med 84:692-700.
17. Millat G, Froissart R, Cudry S, Bonnet V, Maire I, Bozon D (1998) COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations. Biochim Biophys Acta 1406:214-218.
18. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3421-3452.
19. Popowska E, Rathmann M, Tylki-Szymanska A, et al (1995) Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mutat 5:97-100.
20. Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A. (1995) Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Hum Genet 95:34-38.
21. Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A (1996) Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet 59:1202-1209.
22. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174.
23. Stenson PD, Ball EV, Mort M, et al (2003) Human gene mutation database (HGMD):2003 udate. Hum Matat 21:577-581.
24. Timms KM, Lu F, Shen Y, et al (1995) 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 5:71-78.
25. Sukegawa K, Tomatsu S, Tamai K, et al (1992) Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. Biochem Biophys Res Commun 183:809-813.
26. Sukegawa-Hayasaka K, Kato Z, Nakamura H, et al (2006) Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. J Inherit Metab Dis 29:755-761.
27. Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE (1998) Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch Dis Child 79:237-241.
28. Voznyi YV, Keulemans JL, Van Diggelen OP (2001) A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 24:675-680.
29. Whitley CB, Anderson RA, Aronovich EL, et al (1993) Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. Hum Mutat 2:235-237.