Identification of a Novel Mutation in the ARSB Gene that Is Frequent among Brazilian MPSVI Patients

Genetic Testing

Volumn 7, Issue 4, 2003, Pages 347-349

  Gomes Petry, Márcia Fernanda ^a   Dieter, Tatiana ^a   Burin, Maira ^a   Giugliani, Roberto ^a   Leistner, Sandra ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN SULFATE; DERMATAN SULFATE; GENOMIC DNA; N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CLINICAL ARTICLE; DNA EXTRACTION; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; LYSOSOME; MUCOPOLYSACCHARIDOSIS; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; URINARY EXCRETION;

BRAZIL; CASE-CONTROL STUDIES; FRAMESHIFT MUTATION; HUMANS; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 1042278020     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703322783743     Document Type: Article

References (9)

1. ARLT, G., BROOKS, D.A., ISBRANDT, D., HOPWOOD, J.J., BIELICKI, J., BRADFORD, T.M., BINDLOOS-PETHERBRIDGE, C.A., FIGURA, K.V., and PETERS, C. (1994). Juvenile Form of Mucopolysacharidosis VI (Maroteaux-Lamy Syndrome). J Biol. Chem. 269, 9638-9643.
2. ISBRANDT, D., ARLT, G., BROOKS, D.A., HOPWOOD, J.J., FIGURA, K.V., and PETERS, C. (1994). Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): six Unique Arylsulphatase B Gene Alleles Causing Variable Disease Phenotypes. Am. J. Hum. Genet. 54, 454-463.
3. ISBRANDT, D., HOPWOOD, J.J., FIGURA, K.V., and PETERS, C. (1996). Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy Syndrome. Hum. Mutat. 7, 361-363,
4. 238) results in a severe Maroteaux-Lamy Phenotype. Hum. Mutat. 1, 397-402.
5. LITJENS, T., and HOPWOOD, J. (2001). Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum. Mutat. 18, 282-295.
6. MILLER, A.S., DYKES, D.D., and POLESKY, H.F. (1988). A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16, 1215.
7. ORITA, M., IWAHANA, H., KANAZAWA, H., HAYASHI, K., and SEKIYA, T. (1989). Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc. Natl. Acad. Sci. USA 84, 685-689.
8. PETERS, C., SCHMIDT, B., ROMMERSKIRCH, W., RUPP, K., ZÜHLSDORFT, M., VINGRON, M., MEYER, H.E., POHLMANN, R., and VON FIGURA, K. (1990). Phylogenetic conservation of arylsulfatases: cDNA cloning and expression of human arylsulfatase B. J. Biol. Chem. 265, 3374-3381.
9. VOSKOBOEVA, E., ISBRANDT, D., FIGURE, K.V., KRASNOPOLSKAYA, X., AND PETERS, C. (1994). Four novel mutant alleles of the arylsulphatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). Hum. Genet. 93, 259[ND]264.