Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations

Journal of Human Genetics

Volumn 55, Issue 8, 2010, Pages 534-540

  Wang, Zheng ^a,b   Zhang, Weimin ^c   Wang, Yun ^a,b   Meng, Yan ^a,b   Su, Liang ^a,b   Shi, Huiping ^c   Huang, Shangzhi ^a,b,c  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^b WHO Collaborating Center for Community Control of Hereditary Diseases   (China)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Chinese; GALNS; mucopolysaccharidosis IVA; mutation spectrum; N acetylgalactosamine 6 sulfatase

Indexed keywords

MESSENGER RNA;

ARTICLE; CHINESE; CLINICAL ARTICLE; EXON; FEMALE; GALNS GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; NONSENSE MUTATION; RNA SPLICING; SEQUENCE ANALYSIS; SPECTROSCOPY;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PROGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

IVA;

EID: 77957581737     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.65     Document Type: Article

References (36)

1. Di Ferrante, N., Ginsberg, L. C., Donnelly, P. V., Di Ferrante, D. T. & Caskey, C. T. Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science 199, 79-81 (1978).
2. Singh, J., Di Ferrante, N., Niebes, P. & Tavella, D. N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease. J. Clin. Invest. 57, 1036-1040 (1976).
3. Montano, A. M., Tomatsu, S., Gottesman, G. S., Smith, M. & Orii, T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J. Inherit. Metab. Dis. 30, 165-174 (2007).
4. Montano, A. M., Tomatsu, S., Brusius, A., Smith, M. & Orii, T. Growth charts for patients affected with Morquio A disease. Am. J. Med. Genet. A 146A, 1286-1295 (2008).
5. Masuno, M., Tomatsu, S., Nakashima, Y., Hori, T., Fukuda, S., Masue, M. et al. Mucopolysaccharidosis IV A: assignment of the human N- acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics 16, 777-778 (1993).
6. Morris, C. P., Guo, X. H., Apostolou, S., Hopwood, J. J. & Scott, H. S. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics 22, 652-654 (1994).
7. Nakashima, Y., Tomatsu, S., Hori, T., Fukuda, S., Sukegawa, K., Kondo, N. et al. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. Genomics 20, 99-104 (1994).
8. Tomatsu, S., Fukuda, S., Masue, M., Sukegawa, K., Fukao, T., Yamagishi, A. et al. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem. Biophys. Res. Commun. 181, 677-683 (1991).
9. Tomatsu, S., Montano, A. M., Nishioka, T., Gutierrez, M. A., Pena, O. M., Tranda Firescu, G. G. et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum. Mutat. 26, 500-512 (2005).
10. Tomatsu, S., Dieter, T., Schwartz, I. V., Sarmient, P., Giugliani, R., Barrera, L. A. et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J. Hum. Genet. 49, 490-494 (2004).
11. Tomatsu, S., Nishioka, T., Montano, A. M., Gutierrez, M. A., Pena, O. S., Orii, K. O. et al. Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J. Med. Genet. 41, e98 (2004).
12. Terzioglu, M., Tokatli, A., Coskun, T. & Emre, S. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene. Hum. Mutat. 20, 477-478 (2002).
13. Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J. E., Ferreira, P., Di Natale, P. et al. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum. Mutat. 10, 368-375 (1997).
14. Kato, Z., Fukuda, S., Tomatsu, S., Vega, H., Yasunaga, T., Yamagishi, A. et al. A novel common missense mutation G301C in the N-acetylgalactosamine-6- sulfate sulfatase gene in mucopolysaccharidosis IVA. Hum. Genet. 101, 97-101 (1997).
15. Bunge, S., Kleijer, W. J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S. et al. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum. Mutat. 10, 223-232 (1997).
16. Laradi, S., Tukel, T., Khediri, S., Shabbeer, J., Erazo, M., Chkioua, L. et al. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol. Genet. Metab. 87, 213-218 (2006).
17. Tomatsu, S., Filocamo, M., Orii, K. O., Sly, W. S., Gutierrez, M. A., Nishioka, T. et al. Mucopolysaccharidosis IVA (Morquio A) : identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Hum. Mutat. 24, 187-188 (2004).
18. Yang, C. F., Tsai, F. J., Lin, S. P., Lee, C. C. & Wu, J. Y. A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Hum. Mutat. 18, 254 (2001).
19. Yamada, N., Fukuda, S., Tomatsu, S., Muller, V., Hopwood, J. J., Nelson, J. et al. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum. Mutat. 11, 202-208 (1998).
20. Kleijer, W. J., Geilen, G. C., Garritsen, V., Huijmans, J. G., Los, F. J., Voznyi, Y. V. et al. Firsttrimester diagnosis of Morquio disease type A. Prenat. Diagn. 20, 183-185 (2000).
21. Rozen, S. & Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132, 365-386 (2000).
22. Ng, P. C. & Henikoff, S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003).
23. Sunyaev, S., Ramensky, V., Koch, I., Lathe, W. III, Kondrashov, A. S. & Bork, P. Prediction of deleterious human alleles. Hum. Mol. Genet. 10, 591-597 (2001).
24. Tomatsu, S., Montano, A. M., Lopez, P., Trandafirescu, G., Gutierrez, M. A., Oikawa, H. et al. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol. Genet. Metab. 89, 139-149 (2006).
25. Larkin, M. A., Blackshields, G., Brown, N. P., Chenna, R., McGettigan, P. A., McWilliam, H. et al. Clustal W and Clustal X version 2.0. Bioinformatics 23, 2947-2948 (2007).
26. Grantham, R. Amino acid difference formula to help explain protein evolution. Science 185, 862-864 (1974).
27. Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montano, A. M., Fukao, T. et al. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum. Mol. Genet. 9, 1283-1290 (2000).
28. Ostrowska, H., Krukowska, K., Kalinowska, J., Orlowska, M. & Lengiewicz, I. Lysosomal high molecular weight multienzyme complex. Cell Mol. Biol. Lett. 8, 19-24 (2003).
29. Pshezhetsky, A. V. & Ashmarina, M. Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog. Nucleic Acid. Res. Mol. Biol. 69, 81-114 (2001).
30. Fukuda, S., Tomatsu, S., Masue, M., Sukegawa, K., Iwata, H., Ogawa, T. et al. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J. Clin. Invest. 90, 1049-1053 (1992).
31. Montano, A. M., Kaitila, I., Sukegawa, K., Tomatsu, S., Kato, Z., Nakamura, H. et al. Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Hum. Genet. 113, 162-169 (2003).
32. Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. et al. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Hum. Mutat. 7, 123-134 (1996).
33. Gieselmann, V., Polten, A., Kreysing, J. & von Figura, K. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc. Natl Acad. Sci. USA 86, 9436-9440 (1989).
34. Wu, Y., Zhang, Y. & Zhang, J. Distribution of exonic splicing enhancer elements in human genes. Genomics 86, 329-336 (2005).
35. Wang, J., Smith, P. J., Krainer, A. R. & Zhang, M. Q. Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res. 33, 5053-5062 (2005).
36. Davis, R. L., Homer, V. M., George, P. M. & Brennan, S. O. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum. Mutat. 30, 221-227 (2009).