Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Molecular Genetics and Metabolism

Volumn 111, Issue 2, 2014, Pages 133-138

  Brusius Facchin, A C ^b   Schwartz, I V D ^a,b   Zimmer, C ^b   Ribeiro, M G ^c   Acosta, A X ^d   Horovitz, D ^e   Monlleo I L ^f   Fontes, M I B ^f   Fett Conte, A ^g   Sobrinho, R P Oliveira ^h   Duarte, A R ⁱ   Boy, R ^j   Mabe, P ^k   Ascurra, M ^l   de Michelena, M ^m   Tylee, K L ⁿ   Besley, G T N ⁿ   Garreton, M C V ^o   Giugliani, R ^a,b   Leistner Segal, S ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^e INSTITUTO OSWALDO CRUZ   (Brazil)

^f UNIVERSIDADE ESTADUAL DE CIÊNCIAS DA SAÚDE DE ALAGOAS   (Brazil)

^g FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^h UNIVERSITY OF CAMPINAS   (Brazil)

ⁱ INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

^j STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^k UNIVERSITY OF CHILE   (Chile)

^l UNIVERSIDAD NACIONAL DE ASUNCIÓN   (Paraguay)

^m UNIVERSIDAD PERUANA CAYETANO HEREDIA   (Peru)

ⁿ ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^o HOSPITAL ROBERTO DEL RÍO   (Chile)

more..

Author keywords

Genotype phenotype correlation; Glycosaminoglycans; Hunter syndrome; Iduronate 2 sulfatase; Mucopolysaccharidosis type II

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUNTER SYNDROME; INDEL MUTATION; INTRON; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; PRIORITY JOURNAL; SOUTH AMERICA; SOUTH AND CENTRAL AMERICA;

GENOTYPE-PHENOTYPE CORRELATION; GLYCOSAMINOGLYCANS; HUNTER SYNDROME; IDURONATE-2-SULFATASE; MUCOPOLYSACCHARIDOSIS TYPE II;

ADULT; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPING TECHNIQUES; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTATION; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; SOUTH AMERICA;

EID: 84893664730     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.011     Document Type: Article

References (53)

1. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Basis of Inherited Disease 2001, 1191-1211. McGraw-Hill, New York. 7th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Wilson J., Morris C.P., Anson D.S., Occhiodoro T., Bielick J., Clements P.R., Hopwood J.J. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc. Natl. Acad. Sci. U. S. A. 1990, 87:8531-8535.
3. Filocamo M., Bonucelli G., Corsolini F., Mazzotti R., Cusano R., Gatti R. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutations in the iduronate-2-sulfatase (IDS) gene. Hum. Mutat. 2001, 164-165.
4. Froissart R., Moreira da Silva I., Guffon N., Bozon D., Maire I. Mucopolysaccharidosis type II genotype/phenotype aspects. Acta Paediatr. Suppl. 2002, 439:82-87.
5. HGMD - The Human Gene Mutation Database http://www.uwcm.ac.uk/uwcm/mg/search.
6. Schwartz I.V., Ribeiro M.G., Mota J.G., Toralles M.B., Correia P., Horovitz D., Santos E.S., Monlleo I.L., Fett-Conte A.C., Sobrinho R.P., Norato D.Y., Paula A.C., Kim C.A., Duarte A.R., Boy R., Valadares E., De Michelena M., Mabe P., Martinhago C.D., Pina-Neto J.M., Kok F., Leistner-Segal S., Burin M.G., Giugliani R. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. Suppl. 2007, 96:63-70.
7. Young I.D.S., Harper P.S., Newcombe R.G., Archer I.M. A clinical and genetic study of Hunter syndrome 2 Differences between the mild and severe forms. J. Med. Genet. 1982, 19:408-411.
8. Dipple K.M., McCabe E.R.B. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
9. Miller A.S., Dykes D.D., Polesky H.F. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 1988, 16:1215.
10. Lualdi S., Regis S., Di Rocco M., Corsolini F., Stroppiano M., Antuzzi D., Filocamo M. Characterization of Idorunate-2-sulfatase gene-pseudogene recombinants in eight patients with mucopolysaccharidosis type II revealed by rapid PCR-based method. Hum. Mutat. 2005, 25:491-497.
11. Bunge S., Steglich C., Zuther C., Beck M., Phillip-Morris C., Schwinger E., Schinzel A., Hopwood J.J., Gal A. Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum. Mol. Genet. 1993, 2:1871-1875.
12. Goldenfum S.L., Young E., Michelakakis H., Tsagarakis S., Winchester B. Mutation analysis in 20 patients with Hunter disease. Hum. Mutat. 1996, 7:76-78.
13. Lagerstedt K., Karsten S., Carlsberg B.M., Kleijer W.J., Tönnesen T., Petterson U., Bondenson M.L. Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome. Hum. Mol. Genet. 1997, 6(4):627-633.
14. Brusius-Facchin A.C., De Souza C.F., Schwartz I.V., Riegel M., Melaragno M.I., Correia P., Moraes L.M., Llerena J., Giugliani R., Leistner-Segal S. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Am. J. Med. Genet. A 2012, 158A:1055-1059.
15. Daniele A., Faust C.J., Herman G.E., Di Natale P., Ballabio A. Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics 1993, 16:755-757.
16. Froissart R., Maire I., Millat G., Cudry S., Birot A.M., Bonnet V., Bouton O., Bozon D. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin. Genet. 1998, 53:362-368.
17. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002, 17:3894-3900.
18. Vafiadaki E., Cooper A., Heptinstall L.E., Hatton C.E., Thornley M., Wraith J.E. Mutation analysis in 57 unrelated patients with MPS II (Hunter disease). Arch. Dis. Child. 1998, 79:237-241.
19. Carrozo R., Tonlorenzi R., Corsolini F., Gatti R. Two new nonsense mutations (Q80X and Q389X) in patients with severe Hunter syndrome. Hum. Mutat. 1996, 7:184-185.
20. Emre S., Terzioǧlu M., Coşkun T., Tokath A., Ozalp I., Müller V., Hopwood J. Biochemical and molecular analysis of mucopolysaccharidoses in Turkey. Turk. J. Pediatr. 2002, 44:13-17.
21. da Silva I.M., Froissart R., dos Santos H.M., Caseiro C., Maire I., Bonzon D. Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. Clin. Genet. 2001, 60:316-318.
22. Flomen R.H., Green P.M., Bentley D.R., Giannelli F., Green E. Detection of point mutations and a gross deletion in six Hunter syndrome patients. Genomics 1992, 13:543-550.
23. Lissens W., Seneca S., Liebaers I. Molecular analysis in 23 Hunter disease families. J. Inherit. Metab. Dis. 1997, 20:453-456.
24. Isogai K., Sukegawa K., Tomatsu S., Fukao T., Song X.Q., Yamada Y., Fukuda S., Orii T., Kondo T. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J. Inherit. Metab. Dis. 1998, 21:60-70.
25. Gort L., Chabás A., Coll M.J. Hunter disease in the Spanish population: molecular analysis in 31 families. J. Inherit. Metab. Dis. 1998, 21:655-661.
26. Li P., Bellows A.B., Thompson J.N. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J. Med. Genet. 1999, 36:21-27.
27. Vallance H.D.H.D., Bernard L.L., Rashed M.M., Chiu D.D., Le G.G., Toone J.J., Applegarth D.A.D.A., Coulter-Mackie M.M. Identification of 6 new mutations in the iduronate sulfatase gene. Hum. Mutat. 1999, 13:338.
28. Timms K., Edwards F., Belmont J.W., Yates J.R.W., Gibbs R.A. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J. Med. Genet. 1998, 35(8):646-649.
29. den Dunnen J.T., Antonorakis S.E. Nomenclature for the description of sequence variations. Hum. Genet. 2001, 109:121-124.
30. Froissart R., Da Silva I.M., Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr. Suppl. 2007, 96:71-77.
31. Sohn Y.B., Ki C.S., Kim C.H., Ko A.R., Yook Y.J., Lee S.J., Kim S.J., Park S.W., Yeau S., Kwon K., Han S.J., Choi E.W., Lee S.Y., Kim J.W., Jin D.K. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clin. Genet. 2012, 2:185-190.
32. Rathmann M., Bunge S., Beck M., Kresse H., Tylki-Szymanksa A., Gal A. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am. J. Hum. Genet. 1996, 59:1202-1209.
33. Zhang H., Li J., Zhang X., Wang Y., Qiu W., Ye J., Han L., Gao X., Gu X. 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 2011, 8:22951.
34. Quaio C.R., Grinberg H., Vieira M.L., Paula A.C., Leal G.N., Gomy I I., Leistner-Segal S., Giugliani R., Bertola D.R., Kim C.A. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). JIMD Rep. 2012, 4:125-128.
35. Tomatsu S., Sukegawa K., Trandafirescu G.G., Gutierrez M.A., Nishioka T., Yamaguchi S., Orii T., Froissart R., Maire I., Chabas A., Cooper A., Di Natale P., Gal A., Noguchi A., Sly W.S. Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations. Eur. J. Hum. Genet. 2006, 14:838-845.
36. Keeratichamroen S., Cairns J.R., Wattanasirichaigoon D., Wasant P., Ngiwsara L., Suwannarat P., Pangkanon S., Kuptanon J., Tanpaiboon P., Rujirawat T., Liammongkolkul S., Svasti J. Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. J. Inherit. Metab. Dis. 2008, 2:303-311.
37. Popowska E., Rathmann M., Tylki-Szymanska A., Bunge S., Steglich C., Schwinger E., Gal A. Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II. Hum. Mutat. 1995, 5:97-100.
38. Karsten S., Voskoboeva W., Carlberg B.M., Kleijer W.J., Tönnesen T., Pettersson U., Bondenson M.L. Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis type II) patients. Hum. Mutat. 1998, 12:433.
39. Chang J.H., Lee-Chen G.J., Lin S.P., Chuang C.K. Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II. Clin. Chim. Acta 2007, 384:167-170.
40. Sukegawa K., Tomatsu S., Fukao T., Iwata H., Song X.Q., Yamada Y., Fukuda S., Isogai K., Orii T. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. Hum. Mutat. 1995, 5:136-143.
41. Karsten S., Voskoboeva E., Tishkanina S., Petterson U., Krasnopolskaja X., Bondenson M.L. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum. Genet. 1998, 103(6):732-735.
42. Kato T., Kato Z., Kuratsubo I., Tanaka N., Ishigami T., Kajihara J., Sukegawa-Hayasaka K., Orii K., Isogai K., Fukao T., Shimozawa N., Orii T., Kondo N., Suzuki Y. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J. Hum. Genet. 2005, 50:395-402.
43. Simon-Schiff E.B., Bach G., Hopwood J.J., Abeliovich D. Mutation analysis of Jewish Hunter patients in Israel. Hum. Mutat. 1994, 4:263-270.
44. Hartog C.C., Fryer A.A., Upadhyaya M.M. Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterization of 6 novel mutations. Hum. Mutat. 1999, 14:87.
45. Schröder W., Wulff K., Wehnert M., Seidlitz G., Herrmann F.H. Mutations of the Iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). Hum. Mutat. 1994, 4:128-131.
46. Jonsson J., Aronovich E.L., Braun S.E., Whitley C.B. Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. Am. J. Hum. Genet. 1995, 56:597-607.
47. Crotty P.L., Braun S.E., Anderson R.A., Whitley C.B. Mutational R468W of the iduronate-2-sulphatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. Hum. Mol. Genet. 1992, 1:755-758.
48. Whitley C.B., Anderson R.A., Aronovich E., Crotty P.L., Anyane-Yeboa K., Russo D., Warburton D. 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. 1993, 2:235-237.
49. Villani G.R.D., Balzano N., Grosso M., Salvatore F., Izzo P., Di Natale P. Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. Hum. Mutat. 1997, 10:71-75.
50. Haldane J.B.S. The rate of spontaneous mutation of a human gene. J. Genet. 1935, 31:317-326.
51. Chase D.S., Morris A.H., Ballabio A., Pepper S., Giannelli F., Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Ann. Hum. Genet. 1986 Oct, 50(Pt 4):349-360.
52. Machill G., Barbujani G., Danieli G.A., Herrmann F.H. Segregation and sporadic cases in families with Hunter's syndrome. J. Med. Genet. Jun. 1991, 28(6):398-401. (PubMed PMID: 1908009).
53. Bellows A.B., Thompson J.N. Mutational analysis, heterozygote detection, and haplotype analysis in 48 families affected with Hunter syndrome. 6th International Symposium on Mucopolysaccharidosis and Related Diseases and International Symposium on Innovative Therapies, May 19-21 2000, 4. University of Minnesota, Minneapolis, USA.