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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2011

Open Access 01-12-2011 | Research

Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Authors: Souhir Khedhiri, Latifa Chkioua, Salima Ferchichi, Abdelhedi Miled, Sandrine Laradi

Published in: Diagnostic Pathology | Issue 1/2011

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Abstract

Abstract

Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. At least, 148 mutations and 16 polymorphisms were identified in the GALNS gene.
The aim of this study was the screening of polymorphisms within 7 patients recruited from many regions of Tunisia in order to determine the haplotypes and their association with the mutations previously reported.

Patients and methods

We have used the PCR sequencing to analyse the different haplotypes and to identify the polymorphisms within 7 affected MPS IVA patients.

Results

Nine GALNS polymorphisms were detected in the 7 studied patients. Five of these polymorphisms are within the GALNS gene exons. Six polymorphisms have been previously described and used for linkage analysis in MPS IVA patients and determination of haplotypes. We have identified two novel heterozygous polymorphisms in intron 13 and intron 3

Conclusion

Polymorphisms may be useful for carrier detection and prenatal diagnosis in informative families whose specific mutations have not been identified. The determination of haplotypes can also determine the origin of some mutations in a population.
Literature
1.
Matalon R, Arbogast B, Justice P, Brandt IK, Dorfman A: Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun. 1974, 61: 759-765. 10.1016/0006-291X(74)91022-5.CrossRefPubMed
2.
Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyau Y, Hashimoto T, Titani K, Oyama R, Suzuki M, Yagi K, Hayashi Y, Orii T: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun. 1991, 181: 677-682. 10.1016/0006-291X(91)91244-7.CrossRefPubMed
3.
Baker E, Guo XH, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris CP: The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet. 1993, 52: 96-98.PubMedCentralPubMed
4.
Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, et al.: Mutation and polymorphism spectrum of the GALNS gene in Mucopolysaccharidosis IV A (Morquio A). Hum Mutat. 2005, 26: 500-512. 10.1002/humu.20257.CrossRefPubMed
5.
Bunge S, Kleijer WJ, Tylki-Szymanka A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poothuis BJH, Czartoryska B, Orii T, Gal A: Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients Morquio disease (MPS IVA). Hum Mutat. 1997, 10: 223-232. 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J.CrossRefPubMed
6.
Rezvi GMM, Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JE, Iwata H, Kato Z, Yamada N, Sukegawa K, Kondo N, Shimozawa N, Suzuki Y, Orii T: Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations. J Inherit Metab Dis. 1996, 19: 301-308. 10.1007/BF01799258.CrossRefPubMed
7.
Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamagushi A, Kato Z, Yamada N, Isogai K, Sukegawa K, Shimozawa N, Kondo N, orii T: Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease. Hum Mutat. 1998, 6: S42-S46.CrossRef
8.
Laradi S, Tukel T, Khedhiri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ: Muchopolysaccharidosis type IVA: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab. 2006, 87: 213-218. 10.1016/j.ymgme.2005.11.001.CrossRefPubMed
9.
Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N: Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene polymorphism by single strand conformation polymorphism analysis or by Sty I and Stu I cleavages. Hum Genet. 1995, 95: 243-244.PubMed
10.
Tomatsu S, Fukuda S, Iwata H, Ogawa T, Sukegawa K, Orii T: XhoI and SphI RFLPs in the GALNS gene. Hum Mol Genet. 1994, 3: 1208-
11.
Tomatsu S, Fukuda S, Ogawa T, Kato Z, Isogai K, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T: A novel splice site mutation in intron 1 of the GALNS, gene in a Japanese patient with mucopolysaccharidosis IVA. Hum Mol Genet. 1994, 3: 1427-1428. 10.1093/hmg/3.8.1427.CrossRefPubMed
12.
Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S: Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia. Pathol Biol. 2009, 57: 392-397. 10.1016/j.patbio.2008.05.005.CrossRefPubMed
13.
Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GMM, Yamagishi A, Yamada N, Isogai K, Kato Z, Sukegawa k, Kondo N, Suzuki Y, Shimozawa N, Orii T: Mucopolysaccharidosis IVA: Identification of a common missense mutation I113F in the N-acetylgalactosamine-6-sulfate sulfatase gene. Am J Hum Genet. 1995, 57: 556-563.PubMedCentralPubMed
14.
Teebi AS, El-Shanti HI: Consanguinity: implications for practice, research, and policy. The Lancet. 2006, 367: 970-971. 10.1016/S0140-6736(06)68406-7.CrossRef
Metadata
Title
Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease
Authors
Souhir Khedhiri
Latifa Chkioua
Salima Ferchichi
Abdelhedi Miled
Sandrine Laradi
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2011
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/1746-1596-6-11

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