Deep genotyping of the IDS gene in colombian patients with hunter syndrome

JIMD Reports

Volumn 19, Issue , 2015, Pages 101-109

  Galvis, Johanna ^a   González, Jannet ^b   Uribe, Alfredo ^c   Velasco, Harvy ^a  

^a UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^b PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^c UNIVERSIDAD DE LOS ANDES   (Colombia)

Author keywords

Bioinformatic analysis; Colombian patients; Iduronate sulfatase; Molecular docking; Mucopolysaccharidosis ii

Indexed keywords

EID: 84955172890     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_376     Document Type: Chapter

References (50)

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, Dahl N, Malmgren H et al (1995) 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
3. Brusius-Facchin AC, Schwartz IV, Zimmer C et al (2014) Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. Mol Genet Metab 111:133–138
4. Bunge S, Steglich C, Zuther C et al (1993) Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 2:1871–1875
5. Bunge S, Rathmann M, Steglich C et al (1998) Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II. Eur J Hum Genet 6:492–500
6. Dierks T, Lecca MR, Schlotterhose P, Schmidt B, von Figura K (1999) Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. EMBO J 18:2084–2091
7. Diez-Roux G, Ballabio A (2005) Sulfatases and human disease. Annu Rev Genomics Hum Genet 6:355–379
8. 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
9. Froissart R, Da Silva IM, Maire I (2007) Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl 96:71–77
10. Galvis J, Gonzalez J, Torrente D, Velasco H, Barreto G (2014) In silico analysis of iduronate 2 sulfatase mutations in Colombian patients with hunter syndrome (MPSII) in: advances in computational biology. Adv Intel Syst Comput 232 (2014):205–212
11. Gómez A, García-Robles R, Suárez-Obando F (2012) Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupa-miento espacial en los departamentos de Cundinamarca y Boyacá. Biomedica 32:602–609
12. Gucev ZS, Tasic V, Sinigerska I, Kremensky I et al (2011) Hunter syndrome (Mucopolysacharidosis Type II) in Macedonia and Bulgaria. Prilozi 32(2):187–198
13. Holt J, Poe MD, Escolar ML (2011) Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J Pediatr 159(320–326):e322
14. 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
15. Jones SA, Almassy Z, Beck M et al (2009) Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 32:534–543
16. 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
17. Lagerstedt K, Carlberg BM, Karimi-Nejad R, Kleijer WJ, Bondeson ML (2000) Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene. Hum Mutat 15:324–331
18. Lau C, Lam CW (2008) Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. Clin Chim Acta 392:8–10
19. Li P, Thompson JN (1996) Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons. J Inher Metab Dis 19(1):93–94
20. Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Lin HY, Chuang CK (2006) Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Clin Chim Acta 369:29–34
21. Lissens W, Seneca S, Liebaers I (1997) Molecular analysis in 23 Hunter disease families. J Inher Metab Dis 20:453–456
22. 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
23. Lualdi S, Tappino B, Di Duca M et al (2010) Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Hum Mutat 31:E1261–E1285
24. Malm G, Lund AM, Mansson JE, Heiberg A (2008) Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 97:1577–1581
25. Martin R, Beck M, Eng C et al (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121: e377–e386
26. Miech C, Dierks T, Selmer T, von Figura K, Schmidt B (1998) Arylsulfatase from Klebsiella pneumoniae carries a formylglycine generated from a serine. J Biol Chem 273:4835–4837
27. Millat G, Froissart R, Maire I, Bozon D (1997) Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue. Biochem J 326(Pt 1):243–247
28. Nelson J (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355–358
29. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR (ed) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, NY
30. Ochiai T, Suzuki Y, Kato T et al (2007) Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. J Eur Acad Dermatol Venereol 21:1082–1085
31. Parkinson EJ, Muller V, Hopwood JJ, Brooks DA (2004) Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. Mol Genet Metab 81:58–64
32. Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151–156
33. 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
34. 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
35. Scarpa M, Almassy Z, Beck M et al (2011) Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 6:72
36. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
37. Schwartz IV, Ribeiro MG, Mota JG et al (2007) A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl 96:63–70
38. Sohn YB, Ki CS, Kim CH et al (2012) Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clin Genet 81:185–190
39. Steen-Bondeson ML, Dahl N, Tonnesen T et al (1992) Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene. Hum Mol Genet 1:195–198
40. 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
41. 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
42. Villani GR, Daniele A, Balzano N, Di Natale P (2000) Expression of five iduronate-2-sulfatase site-directed mutations. Biochim Biophys Acta 1501(2–3):71–80
43. Waldow A, Schmidt B, Dierks T, von Bulow R, von Figura K (1999) Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding. J Biol Chem 274:12284–12288
44. 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(3):235–23
45. Wilson PJ, Morris CP, Anson DS et al (1990) Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci U S A 87:8531–8535
46. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J (2008a) Initial report from the hunter outcome survey. Genet Med 10:508–516
47. Wraith JE, Scarpa M, Bec M et al (2008b) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167:267–277
48. Yatziv S, Erickson RP, Epstein CJ (1977) Mild and severe Hunter syndrome (MPS II) within the same sibships. Clin Genet 11:319–326
49. Young ID, Harper PS, Newcombe RG, Archer IM (1982) A clinical and genetic study of Hunter’s syndrome. 2. Differences between the mild and severe forms. J Med Genet 19:408–411
50. Zhang H, Li J, Zhang X et al (2011) Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G > A (p.Gln293Gln) synonymous variation in a female create exonic splicing. PLoS One 6:e22951