Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene
Corresponding Author
Seiji Fukuda
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorShunji Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorAlan Cooper
Royal Manchester Children's Hospital, University of Manchester School of Medicine, Manchester M27 1HA, United Kingdom; Fax: 81-58-265-9011
Search for more papers by this authorJ.E. Wraith
Royal Manchester Children's Hospital, University of Manchester School of Medicine, Manchester M27 1HA, United Kingdom; Fax: 81-58-265-9011
Search for more papers by this authorZenichiro Kato
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorNaoto Yamada
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorKoji Isogai
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorKazuko Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorNaomi Kondo
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorTadao Orii
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorCorresponding Author
Seiji Fukuda
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorShunji Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorAlan Cooper
Royal Manchester Children's Hospital, University of Manchester School of Medicine, Manchester M27 1HA, United Kingdom; Fax: 81-58-265-9011
Search for more papers by this authorJ.E. Wraith
Royal Manchester Children's Hospital, University of Manchester School of Medicine, Manchester M27 1HA, United Kingdom; Fax: 81-58-265-9011
Search for more papers by this authorZenichiro Kato
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorNaoto Yamada
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorKoji Isogai
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorKazuko Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorNaomi Kondo
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this authorTadao Orii
Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan
Search for more papers by this author1098-1004(1996)8:2<187::aid-humu14>3.0.co;2-z.fp.png)
References
- Baker E, Guo X-H, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris P (1993) The Morquio A syndrome (Mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet 52: 96–97.
- Beck M, Glössl J, Grubisic A, Spranger J (1986) Heterogeneity of Morquio disease. Clin Genet 29: 325–331.
- Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, Murooka K, Kiman T, Hashimoto T, Orii T (1992) Mucopolysaccharidosis IVA N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J Clin Invest 90: 1049–1053.
- Glössl J, Maroteaux P, Di Natale P, Kresse H (1981) Different properties of residual N-acetylgalactosamine-6-sulfate sulfatase in fibroblasts from patients with mild and severe forms of Morquio disease type A. Pediatr Res 15: 976–978.
- Hechit JT, Scott CI, Smith TK, Williams JC (1984) Mild manifestations of the Morquio syndrome. Am J Med Genet 18: 369–371.
- Iwata H, Tomatsu S, Fukuda S, Uchiyama A, Rezvi GM, Ogawa T, Hori T, Nakashima Y, Yamagishi A, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Orii T (1995) Mucopolysaccharidosis IVA: Polymorphic haplotypes and informative RFLPs in the Japanese population. Human Genet 95: 257–264.
- Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86: 425–441.
- Maroteaux P, Lamy M (1967) Studying the mucoplysaccharidoses. Lancet (ii): 510.
- Masue M, Sukegawa K, Orii T, Hashimoto T (1991) N-acetylgalactosamine-6-sulfate sulfatase in human placenta. J Biochem 110: 965–970.
- Masuno M, Tomatsu S, Nakashima Y, Hori T, Fukuda S, Masue M, Sukegawa K, Orii T (1993) Mucopolysaccharidosis IVA: Assignment of human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics 16: 777–778.
- Matalon R, Arbogast B, Justice P, Brandt IK, Dorfman A (1974) Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun 61: 709–715.
- Morquio L (1929) Sur une forme de dystrophie osseuse familiale. Bull Soc Pediat Paris 27: 145–152.
- Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa Y, 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.
- Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi G Md M, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1995) Mucopolysaccharidosis IVA: Screening and idetification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mol Genet 4: 341–349.
- Orii T, Kiman T, Sukegawa K, Kanemura T, Hattori S, Taga T, Ko K (1981) Late onset N-acetylgalactosamine-6-sulfate sulfatase deficiency in two brothers. Connect Tissue 13: 169–175.
- 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.
- Tomatsu S, Fukuda S, Masue M, Sukegawa K, Masuno M, Orii T (1992) Mucopolysaccharidosis type IVA: Characteriation and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatse gene and genetic heterogeneity. Am J Hum Genet 51: (Suppl) A178.
-
Tomatsu S,
Fukuda S,
Iwata H,
Ogawa T,
Sukegawa K,
Orii T
(1994a)
Polymorphism in the GALNS gene.
Hum Mol Genet
3: 1208.
10.1093/hmg/3.7.1208 Google Scholar
-
Tomatsu S,
Fukuda S,
Iwata H,
Ogawa T,
Sukegawa K,
Orii T
(1994b)
XhoI and Sphl RFLPs in the GALNS gene.
Hum Moi Genet
3: 1208.
10.1093/hmg/3.7.1208-a Google Scholar
- Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1995a) Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene polymorphisms by single-strand conformation polymorphism analysis or by Styl and Stul cleavages. Hum Genet 95: 243–244.
- Tomatsu S, Fukuda S, Ogawa T, Kato Z, Isogai K, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T (1994c) A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA. Hum Mol Genet 3: 1427–1428.
- Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1994d) Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulfate sulfatase gene causing Mucopolysaccharidosis IVA in a Japanese population. J Inher Metab Dis 17: 601–605.
- Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi G Md M, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T, (1995b) Mucopolysaccharidosis IVA: Identification of six novel mutations among non-Japanese patients. Hum Mol Genet 4: 741–743.
- Tomatsu S, Fukuda S, Cooper A, Wraith JE, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T (1995c) Mucopolysaccharidosis IVA: Structural gene alterations identified by Southern blot analysis and identification of racial differences. Hum Genet 95: 376–381.
- Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamada N, Isogai K, Kato Z, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T, (1995d) Two new mutations, Q473X and N487S in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). Hum Mutat 6: 195–196.