메뉴 건너뛰기




Volumn 53, Issue 5, 1998, Pages 362-368

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Author keywords

Iduronate 2 sulfatase; MPS II; Mutations; Rearrangements

Indexed keywords

IDURONATE 2 SULFATASE;

EID: 0031744663     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02746.x     Document Type: Article
Times cited : (55)

References (44)
  • 4
    • 0029161632 scopus 로고
    • The presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome
    • Bondeson ML, Malmgren H, Dahl N, Carlberg BM, Pettersson U. The presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur J Hum Genet 1995: 3: 219-227.
    • (1995) Eur J Hum Genet , vol.3 , pp. 219-227
    • Bondeson, M.L.1    Malmgren, H.2    Dahl, N.3    Carlberg, B.M.4    Pettersson, U.5
  • 5
    • 0028842154 scopus 로고
    • Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28
    • Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A, Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Hum Genet 1995: 95: 34-38.
    • (1995) Hum Genet , vol.95 , pp. 34-38
    • Rathmann, M.1    Bunge, S.2    Steglich, C.3    Schwinger, E.4    Gal, A.5
  • 6
    • 0029165961 scopus 로고
    • 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
    • Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL, Gibbs RA. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 1995: 5: 71-78.
    • (1995) Genome Res , vol.5 , pp. 71-78
    • Timms, K.M.1    Lu, F.2    Shen, Y.3    Pierson, C.A.4    Muzny, D.M.5    Gu, Y.6    Nelson, D.L.7    Gibbs, R.A.8
  • 10
    • 0029834834 scopus 로고    scopus 로고
    • Mucopolyaccharidosis type II (Hunter syndrome): Mutation "hot spots" in the iduronate-2-sulfatase gene
    • Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A. Mucopolyaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet 1996: 59: 1202-1209.
    • (1996) Am J Hum Genet , vol.59 , pp. 1202-1209
    • Rathmann, M.1    Bunge, S.2    Beck, M.3    Kresse, H.4    Tylki-Szymanska, A.5    Gal, A.6
  • 11
    • 0031051185 scopus 로고    scopus 로고
    • Germline and somatic mosaicism in a female carrier of Hunter disease
    • Froissart R, Maire I, Bonnet V, Levade T, Bozon D. Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet 1997: 34: 137-140.
    • (1997) J Med Genet , vol.34 , pp. 137-140
    • Froissart, R.1    Maire, I.2    Bonnet, V.3    Levade, T.4    Bozon, D.5
  • 13
    • 0029919778 scopus 로고    scopus 로고
    • A 5-Megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
    • Birot AM, Delobel B, Gronnier P, Bonnet V, Maire I, Bozon D. A 5-Megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. Hum Mutat 1996: 7: 266-268.
    • (1996) Hum Mutat , vol.7 , pp. 266-268
    • Birot, A.M.1    Delobel, B.2    Gronnier, P.3    Bonnet, V.4    Maire, I.5    Bozon, D.6
  • 14
    • 0029895858 scopus 로고    scopus 로고
    • IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient
    • Birot AM, Bouton O, Froissart R, Maire I, Bozon D. IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. Hum Mutat 1996: 8: 44-50.
    • (1996) Hum Mutat , vol.8 , pp. 44-50
    • Birot, A.M.1    Bouton, O.2    Froissart, R.3    Maire, I.4    Bozon, D.5
  • 15
    • 0028926890 scopus 로고
    • Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
    • Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tönnesen T, Carlberg BM, Pettersson U. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 1995: 4: 615-621.
    • (1995) Hum Mol Genet , vol.4 , pp. 615-621
    • Bondeson, M.L.1    Dahl, N.2    Malmgren, H.3    Kleijer, W.J.4    Tönnesen, T.5    Carlberg, B.M.6    Pettersson, U.7
  • 17
    • 0026604383 scopus 로고
    • The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with hunter syndrome
    • Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with hunter syndrome. Genomics 1992: 12: 52-57.
    • (1992) Genomics , vol.12 , pp. 52-57
    • Palmieri, G.1    Capra, V.2    Romano, G.3    D'Urso, M.4    Johnson, S.5    Schlessinger, D.6    Morris, P.7    Hopwood, J.8    Di Natale, P.9    Gatti, R.10    Ballabio, A.11
  • 20
    • 0025098474 scopus 로고
    • Exon definition may facilitate splice site selection in RNAs with multiple exons
    • Robberson BL, Cote GJ, Berget SM. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 1990: 10: 84-94.
    • (1990) Mol Cell Biol , vol.10 , pp. 84-94
    • Robberson, B.L.1    Cote, G.J.2    Berget, S.M.3
  • 22
    • 0030928564 scopus 로고    scopus 로고
    • Characterization of IDS mutants affecting N-glycosylation sites and the 84 cysteine residue
    • Millat G, Froissart R, Maire I, Bozon D. Characterization of IDS mutants affecting N-glycosylation sites and the 84 cysteine residue. Biochem J 1997: 326: 243-247.
    • (1997) Biochem J , vol.326 , pp. 243-247
    • Millat, G.1    Froissart, R.2    Maire, I.3    Bozon, D.4
  • 23
    • 0029097761 scopus 로고
    • Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients
    • Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, 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: 6: 136-143.
    • (1995) Hum Mutat , vol.6 , pp. 136-143
    • Sukegawa, K.1    Tomatsu, S.2    Fukao, T.3    Iwata, H.4    Song, X.Q.5    Yamada, Y.6    Fukuda, S.7    Isogai, K.8    Orii, T.9
  • 24
    • 0027034401 scopus 로고
    • Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression
    • Crotty PL, Braun SE, Anderson RA, Whitley CB. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. Hum Mol Genet 1992: 1: 755-757.
    • (1992) Hum Mol Genet , vol.1 , pp. 755-757
    • Crotty, P.L.1    Braun, S.E.2    Anderson, R.A.3    Whitley, C.B.4
  • 25
    • 2642669375 scopus 로고    scopus 로고
    • Functional characterization of four missense mutations causing Hunter disease
    • in press
    • Millat G, Froissart R, Cudry S, Bonnet V, Maire I, Bozon D. Functional characterization of four missense mutations causing Hunter disease. BBA 1998 (in press).
    • (1998) BBA
    • Millat, G.1    Froissart, R.2    Cudry, S.3    Bonnet, V.4    Maire, I.5    Bozon, D.6
  • 26
  • 27
    • 0031079605 scopus 로고    scopus 로고
    • IDS transfer from overexpressing cells to IDS-deficient cells
    • Millat G, Froissart R, Maire I, Bozon D. IDS transfer from overexpressing cells to IDS-deficient cells. Exp Cell Res 1997: 230: 362-367.
    • (1997) Exp Cell Res , vol.230 , pp. 362-367
    • Millat, G.1    Froissart, R.2    Maire, I.3    Bozon, D.4
  • 29
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • Schmidt B, Selmer T, Ingendoh A, von Figura K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 1995: 82: 272-278.
    • (1995) Cell , vol.82 , pp. 272-278
    • Schmidt, B.1    Selmer, T.2    Ingendoh, A.3    Von Figura, K.4
  • 31
    • 0024492094 scopus 로고
    • Mosaicism and sporadic haemophilia: Implications for carrier detection
    • Gitschier J, Levinson B, Lehesjoki AE, de la Chapelle A. Mosaicism and sporadic haemophilia: implications for carrier detection. Lancet 1989: i: 273-274.
    • (1989) Lancet , vol.1 , pp. 273-274
    • Gitschier, J.1    Levinson, B.2    Lehesjoki, A.E.3    De La Chapelle, A.4
  • 32
    • 0028330207 scopus 로고
    • Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
    • Wilton SD, Chandler DC, Kakulas BA, Laing NG. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat 1994: 3: 133-140.
    • (1994) Hum Mutat , vol.3 , pp. 133-140
    • Wilton, S.D.1    Chandler, D.C.2    Kakulas, B.A.3    Laing, N.G.4
  • 33
    • 0028256298 scopus 로고    scopus 로고
    • On the origin of deletions and point mutations in Duchenne muscular dystrophy: Most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
    • Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Müller CR, Müller B. On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet 1996: 31: 183-186.
    • (1996) J Med Genet , vol.31 , pp. 183-186
    • Grimm, T.1    Meng, G.2    Liechti-Gallati, S.3    Bettecken, T.4    Müller, C.R.5    Müller, B.6
  • 34
    • 0029865410 scopus 로고    scopus 로고
    • Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
    • Grimm T, Olek K, Oldenburg J. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996b: 58: 657-670.
    • (1996) Am J Hum Genet , vol.58 , pp. 657-670
    • Grimm, T.1    Olek, K.2    Oldenburg, J.3
  • 35
    • 0028854505 scopus 로고
    • Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)
    • 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 (Hunter syndrome). Hum Mutat 1995: 5: 97-100.
    • (1995) Hum Mutat , vol.5 , pp. 97-100
    • Popowska, E.1    Rathmann, M.2    Tylki-Szymanska, A.3    Bunge, S.4    Steglich, C.5    Schwinger, E.6    Gal, A.7
  • 36
    • 0026660087 scopus 로고
    • Detection of point mutations and a gross deletion in six Hunter syndrome patients
    • Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP. Detection of point mutations and a gross deletion in six Hunter syndrome patients. Genomics 1992: 13: 543-550.
    • (1992) Genomics , vol.13 , pp. 543-550
    • Flomen, R.H.1    Green, P.M.2    Bentley, D.R.3    Giannelli, F.4    Green, E.P.5
  • 37
    • 0029883685 scopus 로고    scopus 로고
    • Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons
    • Li P, Thompson N. Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons. J Inher Metab Dis 1996: 19: 93-94.
    • (1996) J Inher Metab Dis , vol.19 , pp. 93-94
    • Li, P.1    Thompson, N.2
  • 38
    • 0026907536 scopus 로고
    • Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysacccharidosis type II (Hunter syndrome)
    • Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A. Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysacccharidosis type II (Hunter syndrome). Hum Mol Genet 1992: 1: 335-339.
    • (1992) Hum Mol Genet , vol.1 , pp. 335-339
    • Bunge, S.1    Steglich, C.2    Beck, M.3    Rosenkranz, W.4    Schwinger, E.5    Hopwood, J.J.6    Gal, A.7
  • 40
    • 0027963208 scopus 로고
    • Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)
    • Schröder W, Wulff K, Wehnert M, Seidlitz G, Herrmann FH. Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). Hum Mutat 1994: 4: 128-131.
    • (1994) Hum Mutat , vol.4 , pp. 128-131
    • Schröder, W.1    Wulff, K.2    Wehnert, M.3    Seidlitz, G.4    Herrmann, F.H.5
  • 41
    • 0028903683 scopus 로고
    • Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome
    • Li P, Huffman P, Thompson JN. Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. Hum Mutat 1995: 5: 272-274.
    • (1995) Hum Mutat , vol.5 , pp. 272-274
    • Li, P.1    Huffman, P.2    Thompson, J.N.3
  • 42
    • 0030754096 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients
    • Villani GRD, 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.
    • (1997) Hum Mutat , vol.10 , pp. 71-75
    • Villani, G.R.D.1    Balzano, N.2    Grosso, M.3    Salvatore, F.4    Izzo, P.5    Di Natale, P.6
  • 43
    • 0027216667 scopus 로고
    • Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene
    • Whitley CB, Anderson RA, Aronovich EL, Crotty PL, 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.
    • (1993) Hum Mutat , vol.2 , pp. 235-237
    • Whitley, C.B.1    Anderson, R.A.2    Aronovich, E.L.3    Crotty, P.L.4    Anyane-Yeboa, K.5    Russo, D.6    Warburton, D.7
  • 44
    • 0029555918 scopus 로고
    • Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene
    • Li P, Moore JF, Thompson JN. Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene. Biochem Mol Biol Int 1995: 35: 1299-1305.
    • (1995) Biochem Mol Biol Int , vol.35 , pp. 1299-1305
    • Li, P.1    Moore, J.F.2    Thompson, J.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.