Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

Molecular Genetics and Metabolism

Volumn 79, Issue 2, 2003, Pages 91-98

  Coulter Mackie, Marion B ^a,b   Gagnier, Liane ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Arylsulfatase A; Lysosomal storage disorder; Metachromatic leukodystrophy; Mutation

Indexed keywords

CEREBROSIDE SULFATASE; CYSTEINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; DNA DETERMINATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION SEQUENCE; GENE MUTATION; GENE STRUCTURE; HETEROZYGOSITY; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; UNITED STATES;

INSERTION SEQUENCES;

EID: 0037941253     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00077-5     Document Type: Article

References (32)

1. von Figura K., Gieselmann V., Jaeken J. Metachromatic leukodystrophy. eighth ed. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 3:2001;3695-3724 McGraw-Hill, New York.
2. Gieselmann V., Polten A., Kreysing J., von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site. Proc. Natl. Acad. Sci. USA. 86:1989;9436-9440.
3. Ricketts M.H., Goldman D., Long J.C., Manowitz P. Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype. Am. J. Med. Genet. 67:1996;387-392.
4. Leistner S., Young E., Meaney C., Winchester B. Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms. J. Inher. Metab. Dis. 18:1995;710-716.
5. Zlotogora J., Bach G., Bösenberg C., Barak Y., von Figura K., Gieselmann V. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. Hum. Mutat. 5:1995;137-143.
6. Gieselmann V., Fluharty A.L., Tonnesen T., von Figura K. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am. J. Hum. Genet. 49:1991;407-413.
7. D.J. Halsall, E.P. Halligan, T.S. Elsey, T.M. Cox, Metachromatic leukodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case, Hum. Mutat. (1999) (Online #273).
8. Gort L., Coll M.J., Chábas A. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy. Hum. Mutat. 14:1999;240-248.
9. Regis S., Filocamo M., Stroppiano M., Corsolini F., Caroli F., Gatti R. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. Hum .Genet. 102:1998;50-53.
10. Barth M.L., Fensom A., Harris A. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. Hum. Mol. Genet. 2:1993;2117-2121.
11. S. Regis, F. Corsolini, M. Stoppiano, R Cusano, M. Filocamo, Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity, Hum. Genet. (2002) (Online article March 2002).
12. Kappler J., von Figura K., Gieselmann V. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann. Neurol. 31:1992;256-261.
13. Coulter-Mackie M.B., Gagnier L., Beis M.J.et al. Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene. J. Med. Genet. 34:1997;493-498.
14. Ainsworth P.J., Surh L.C., Coulter-Mackie M.B. Diagnostic single strand conformational polymorphism (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant. Nucleic Acids Res. 19:1991;405-406.
15. Coulter-Mackie M.B., Rip J., Ludman M.D., Beis J., Cole D.E.C. Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22. J. Med. Genet. 32:1995;787-791.
16. Fluharty A.L., Fluharty C.B., Bohne W., von Figura K., Gieselmann V. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am. J. Hum. Genet. 49:1991;1340-1350.
17. Berger J., Löschl B., Bernheimer H.et al. Occurrence, distribution and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. Am. J. Med. Genet. 69:1997;335-340.
18. A. Marcao, O. Amaral, E. Pinto, R. Pinto, M.C. Sá Miranda, Metachromatic leukodystrophy in Portugal - finding of four new molecular lesions, C300F, P425T, g.l190-1191insC, and g.2408delC, Hum. Mutat. (1999) (Online #232).
19. Frischmeyer P.A., Dietz H. Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8:1999;1893-1900.
20. Zlotogora J., Furman-Shaharabani Y., Harris A., Barth M.L., von Figura K., Gieselmann V. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. J. Med. Genet. 31:1994;672-674.
21. Polten A., Fluharty A.L., Fluharty C.B., Kappler J., von Figura K., Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N. Engl. J. Med. 324:1991;18-22.
22. Coulter-Mackie M.B., Gagnier L. Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles. Am. J. Med. Genet. 73:1997;32-35.
23. Lissens W., Vervoort R., Van Regemorter N., Van Bogaert P., Freund W., Verellen-Dumoulin C., Seneca S., Liebaers I. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. J. Inher. Metab. Dis. 19:1996;782-786.
24. Barth M.L., Fensom A., Harris A. Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum. Mutat. 6:1995;170-176.
25. Coulter-Mackie M.B., Gagnier L. Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. Hum. Mutat. Suppl. 1:1998;S254-S256.
26. Fluharty A.L., Fluharty C.B., Bohne W., von Figura K., Gieselmann V. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am. J. Hum. Genet. 49:1991;1340-1350.
27. Arbour L.T., Silver K., Hechtman P., Treacy E.P., Coulter-Mackie M.B. Variable onset of metachromatic leukodystrophy in a Vietnamese family. Pediatr. Neurol. 23:2000;173-176.
28. Coulter-Mackie M.B., Applegarth D.A., Toone J.R., Gagnier L., Anzarut A.R., Hendson G. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation. Can. J. Neurol. Sci. 29:2002;159-163.
29. Harvey J.S., Nelson P.V., Carey W.F., Robertson E.F., Morris C.P. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. Hum. Mutat. 2:1993;261-267.
30. Heinisch U., Zlotogora J., Kafert S., Gieselmann V. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am. J. Hum. Genet. 56:1995;51-57.
31. Lukatela G., Krauss N., Theis K.et al. Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry. 37:1998;3654-3664.
32. Harvey J.D., Carey W.F., Nelson P.V., Morris C.P. Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulfatase A gene. Hum. Mol. Genet. 3:1994;207.