Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients

Molecular Genetics and Metabolism

Volumn 87, Issue 3 SPEC. ISS., 2006, Pages 213-218

  Laradi, S ^a,b,c   Tukel, T ^a   Khediri, S ^b,c   Shabbeer, J ^a   Erazo, M ^a   Chkioua, L ^b,c   Chaabouni, M ^d   Ferchichi, S ^b,c   Miled, A ^b,c   Desnick, R J ^a  

^a NEW YORK UNIVERSITY   (United States)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d HEDI CHAKER HOSPITAL   (Tunisia)

Author keywords

Morquio A syndrome; MPS IV; Mucopolysaccharidosis type IVA; Mutations; N Acetylgalactosamine 6 sulfatase; Tunisia

Indexed keywords

GLYCOSAMINOGLYCAN POLYSULFATE; N ACETYLGALACTOSAMINE 6 SULFATASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MALE; MORQUIO SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

IVA;

EID: 33644647762     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.11.001     Document Type: Article

References (27)

1. E.F. Neufeld, and J. Muenzer The mucopolysaccharidoses C.R. Scriver A.L. Beaudet W.S. Sly D. Valle K.E. Kinzler B. Vogelstein The Metabolic and Molecular Bases of Inherited Diseases 2001 McGraw-Hill New York 3421 3452
2. L. Morquio sur une forme de dystrophie osseuse familiale Bull. Soic. Pediatr. Paris 27 1929 145 152
3. P.M. Hoogerbrugge, O.F. Brouwer, P. Bordigoni, O. Ringden, P. Kapaun, J.J. Ortega, A. O'Meara, G. Cornu, G. Souillet, D. Frappaz, S. Blanche, and A. Fischer Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation Lancet 345 1995 1398 1402
4. G. Toietta, G.M. Severini, C. Traversari, S. Tomatsu, K. Sukegawa, S. Fukuda, N. Kondo, P. Tortora, and C. Bordignon Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro Hum. Gene Ther. 12 2001 2007 2016
5. S. Tomatsu, K.O. Orii, C. Vogler, J. Nakayama, B. Levy, J.H. Grubb, M.A. Gutierrez, S. Shim, S. Yamaguchi, T. Nishioka, A.M. Montano, A. Noguchi, T. Orii, N. Kondo, and W.S. Sly Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease Hum. Mol. Genet. 12 2003 3349 3358
6. S. Tomatsu, S. Fukuda, M. Masue, K. Sukegawa, T. Fukao, A. Yamagishi, T. Hori, H. Iwata, T. Ogawa, Y. Nakashima, Y. Hanyu, T. Hashimoto, K. Titani, R. Oyama, M. Suzuki, K. Yagi, Y. Hayashi, and T. Orii Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase Biochem. Biophys. Res. Commun. 181 1991 677 683
7. Y. Nakashima, S. Tomatsu, T. Hori, S. Fukuda, K. Sukegawa, N. Kondo, Y. Suzuki, N. Shimozawa, and T. Orii Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region Genomics 20 1994 99 104
8. M. Masue, K. Sukegawa, T. Orii, and T. Hashimoto N-acetylgalactosamine-6- sulfate sulfatase in human placenta: purification and characteristics J. Biochem. (Tokyo) 110 1991 965 970
9. K. Sukegawa, H. Nakamura, Z. Kato, S. Tomatsu, A.M. Montano, T. Fukao, G. Toietta, P. Tortora, T. Orii, and N. Kondo Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes Hum. Mol. Genet. 9 2000 1283 1290
10. L. Ben M'rad Le choix matrimonial en Tunisie est-il transmissible? Antropo 7 2004 31 37
11. O.P. van Diggelen, H. Zhao, W.J. Kleijer, H.C. Janse, B.J. Poorthuis, J. van Pelt, J.P. Kamerling, and H. Galjaard A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A) Clin. Chim. Acta 187 1990 131 139
12. J. Sambrook, E.F. Fritisch, and T. Maniatis Molecular Cloning: A Laboratory Manual 1989 Cold Spring Harbor Laboratory Cold Spring Harbor, New York
13. T. Ogawa, S. Tomatsu, S. Fukuda, A. Yamagishi, G.M. Rezvi, K. Sukegawa, N. Kondo, Y. Suzuki, N. Shimozawa, and T. Oru Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene Hum. Mol. Genet. 4 1995 341 349
14. S. Tomatsu, S. Fukuda, A. Uchiyama, T. Hori, Y. Nakashima, K. Sukegawa, N. Kondo, Y. Suzuki, N. Shimozawa, and T. Orii Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages Hum. Genet. 95 1995 243 244
15. S. Tomatsu, S. Fukuda, H. Iwata, T. Ogawa, K. Sukegawa, and T. Orii XhoI and SphI RFLPs in the GALNS gene Hum. Mol. Genet. 3 1994 1208
16. S. Tomatsu, S. Fukuda, A. Cooper, J.E. Wraith, G.M. Rezvi, A. Yamagishi, N. Yamada, Z. Kato, K. Isogai, and K. Sukegawa Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-acetylgalactosamine- 6-sulfate sulfatase gene Am. J. Hum. Genet. 57 1995 556 563
17. S. Tomatsu, S. Fukuda, T. Ogawa, Z. Kato, K. Isogai, N. Kondo, Y. Suzuki, N. Shimozawa, K. Sukegawa, and T. Orii A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA Hum. Mol. Genet. 3 1994 1427 1428
18. S. Tomatsu, M. Filocamo, K.O. Orii, W.S. Sly, M.A. Gutierrez, T. Nishioka, O.P. Serrato, P. Di Natale, A.M. Montano, S. Yamaguchi, N. Kondo, T. Orii, and A. Noguchi Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients Hum. Mutat. 24 2004 187 188
19. S. Laradi Etude clinico-biologique et moleculaire des mucopolysaccharidoses en Tunisie du centre et du sud Ann. Biol. Clin. 59 2001 100 104
20. B.J. Poorthuis, R.A. Wevers, W.J. Kleijer, J.E. Groener, J.G. de Jong, S. van Weely, K.E. Niezen-Koning, and O.P. van Diggelen The frequency of lysosomal storage diseases in The Netherlands Hum. Genet. 105 1999 151 156
21. J. Nelson Incidence of the mucopolysaccharidoses in Northern Ireland Hum. Genet. 101 1997 355 358
22. R.B. Lowry, D.A. Applegarth, J.R. Toone, E. MacDonald, and N.Y. Thunem An update on the frequency of mucopolysaccharide syndromes in British Columbia Hum. Genet. 85 1990 389 390
23. S. Tomatsu, S. Fukuda, A. Yamagishi, A. Cooper, J.F. Wraith, T. Hori, Z. Kato, N. Yamada, K. Isogai, K. Sukegawa, N. Kondo, Y. Suzuki, N. Shimozawa, and T. Orii Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency Am. J. Hum. Genet. 58 1996 950 962
24. S. Ben Arab, S. Masmoudi, N. Beltaief, S. Hachicha, and H. Ayadi Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness Genet. Epidemiol. 27 2004 74 79
25. R. Kornreich, J. Ekstein, L. Edelmann, and R.J. Desnick Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population Genet. Med. 6 2004 415 420
26. S. Tomatsu, S. Fukuda, A. Cooper, J.E. Wraith, A. Yamagishi, Z. Kato, N. Yamada, K. Isogai, K. Sukegawa, Y. Suzuki, N. Shimozawa, N. Kondo, W.S. Sly, and T. Orii Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease Hum. Mutat. 6 1998 S42 S46
27. M. Sardiello, I. Annbunziata, G. Roma, and A. Ballabio Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship Hum. Mol. Genet. 14 2005 3203 3217