Identification of a common mutation in mucopolysaccharidosis IVA: Correlation among genotype, phenotype, and keratan sulfate

Journal of Human Genetics

Volumn 49, Issue 9, 2004, Pages 490-494

  Tomatsu, Shunji ^a   Dieter, Tatiana ^b   Schwartz, Ida V ^b   Sarmient, Piedad ^c   Giugliani, Roberto ^b   Barrera, Luis A ^c   Guelbert, Norberto ^d   Kremer, Raquel ^d   Repetto, Gabriela M ^e   Gutierrez, Monica A ^a,c   Nishioka, Tatsuo ^a   Peña Serrato, Olga ^a   Montaño, Adriana Maria ^f   Yamaguchi, Seiji ^g   Noguchi, Akihiko ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^d Hospital de Ninos de Cordoba   (Argentina)

^e UNIVERSIDAD DEL DESARROLLO   (Chile)

^f GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^g SHIMANE UNIVERSITY   (Japan)

Author keywords

Common mutation; Genomic PCR amplification; Latin America; Mucopolysaccharidosis IVA; N acetylgalactosamine 6 sulfate sulfatase

Indexed keywords

KERATAN SULFATE; N ACETYLGALACTOSAMINE 6 SULFATASE;

ADOLESCENT; ADULT; ALLELE; ALLELIC EXCLUSION; ARTICLE; BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CORRELATION ANALYSIS; CPG ISLAND; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MORQUIO SYNDROME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOUTH AND CENTRAL AMERICA; URINE LEVEL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; KERATAN SULFATE; MALE; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SOUTH AMERICA;

INSERTION SEQUENCES; IVA;

EID: 4744360567     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0178-8     Document Type: Article

References (15)

1. Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poortuis BJHM, Czartoryska B, Orii T, Gal A (1997) Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat 10:223-232
2. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113:445-456
3. Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 113:435-444
4. Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, Morooka K, Kiman T, Hashimoto T, Orii T (1992) Mucopolysaccharidosis type IVA N-acetylgalactosamine-6-sulfate sulfatase exonic point mutation in classical Morquio and mild cases. J Clin Invest 90:1049-1053
5. Iwata H, Tomatsu S, Fukuda S, Uchiyama A, Rezvi GM, Ogawa T, Hori T, Nakashima Y, Yamagishi A, Sukegawa K (1995) Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population. Hum Genet 95:257-264
6. Montano AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N (2003) Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Hum Genet 113:162-169
7. Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1994) Mucopolysaccharidosis IVA: molecular cloning of the human N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) and analysis of the 5′-flanking region. Genomics 20:99-104
8. Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GMM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1995) Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mol Genet 4:341-349
9. Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montano AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N (2000) Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum Mol Genet 9:1283-1290
10. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyu Y, Hashimoto T, Titani K, Oyama R, Suzuki M, Yagi K, Hayashi Y, Orii T (1991) Morquio disease: isolation, characterization and expression of full length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 181:677-683
11. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GMM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1995) Mucopolysaccharidosis IVA: identification of a common missense mutation II13F in the N-acetylgalactosamine-6-sulfate sulfatase gene. Am J Hum Genet 57:556-563
12. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T (1997) Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum Mutat 10:368-375
13. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamagishi A, Kato Z, Yamada N, Isogai K, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Orii T (1998) Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease. Hum Mutat Suppl 1:S42-S46
14. Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A (2004) Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res 55:592-597
15. Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T (1998) 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