Mutation in Brief
Free Access
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy
Dr. Marion B. Coulter-Mackie,
Liane Gagnier,
Corresponding Author
Dr. Marion B. Coulter-Mackie
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Rm 2F22 British Columbia's Children's Hospital, 4480 Oak St., Vancouver, B.C., V6H 3V4 CanadaSearch for more papers by this authorLiane Gagnier
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
Search for more papers by this authorDr. Marion B. Coulter-Mackie,
Liane Gagnier,
Corresponding Author
Dr. Marion B. Coulter-Mackie
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Rm 2F22 British Columbia's Children's Hospital, 4480 Oak St., Vancouver, B.C., V6H 3V4 CanadaSearch for more papers by this authorLiane Gagnier
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
Search for more papers by this author
References
- Ainsworth PJ, Surh LC, Coulter-Mackie MB (1991) Diagnostic single strand conformational polymorphism (SSCP): A simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant. Nucleic Acids Res 19: 405–406.
- Barth ML, Fensom A, Harris A (1993) Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Hum Mol Genet 2: 2117–2121.
- Barth ML, Fensom A, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6: 170–176.
- Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulfatases A and B in human urine. Clin Chim Acta 4: 453–455.
- Coulter-Mackie MB, Gagnier L, Beis MJ, Applegarth DA, Cole DEC, Gordon K, Ludman MD (1997) Metachromatic leukodystrophy in three families from Nova Scotia, Canada: A recurring mutation in the arylsulfatase A gene. J Med Genet 34: 493–498.
- Deng WP, Nickoloff JA (1992) Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal Biochem 200: 81–88.
- Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995) A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 15–25.
- Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4: 233–242.
- Heinisch U, Zlotogora J, Kafert S, Gieselmann V (1995) Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56: 51–57.
- Kappler J, Leinekugel P, Conzelmann E, Kleijer WJ, Kohlschütter A, Tønnesen T, Rochel M, Freycon F, Propping P (1991) Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. Hum Genet 86: 463–470.
- Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency:sulfatide lipidosis. In: CR Scriver, AL Beaudet, WS Sly, D Valle, JB Stanbury, JB Wyngaarden, DS Fredrickson (eds) The Metabolic and Molecular Bases of Inherited Disease, 7th ed., vol 2. New York: McGraw-Hill, pp 2693–2739.
- Lee-Vaupel M, Conzelmann E (1987) A simple chromogenic assay for arylsulfatase A. Clin Chim Acta 164: 171–180.
- Mercelis R, Van Elsen AF, Leroy JG (1979) Arylsulphatases A and B in human diploid fibroblasts: Differential assay with 4-methylumbelliferylsulphate and AgN03. Clin Chim Acta 93: 85–92.
- Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl] Med 324: 18–22.
- Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V (1995) Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. Hum Mutat 5: 137–143.