Abstract
A molecular analysis of the arylsulphatase A gene was performed on 26 unrelated, Italian, late infantile metachromatic leucodystrophy patients. The frequency of the common disease causing mutations 609A and 2381T was 28.8% and 1.9% respectively. Pseudodeficiency allele frequency in patients was found to be 13.5% and a frequency of 10.1% was found in 89 unaffected normal controls. The frequency of the 609A mutation in Italian late infantile patients is lower than in late infantile patients from northern Europe, suggesting a higher frequency of different sporadic mutations in the Italian population. A cooperative in cis effect in phenotype determination involving arylsulphatase A mutations and the eventual background of the pseudodeficiency allele is proposed.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BAUM H., DODGSON K. S., SPENCER B. The assay of arylsulphatases A and B in human urine. Clin Chim Acta. 1959 May;4(3):453–455. doi: 10.1016/0009-8981(59)90119-6. [DOI] [PubMed] [Google Scholar]
- Barth M. L., Fensom A., Harris A. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet. 1993 Mar;91(1):73–77. doi: 10.1007/BF00230227. [DOI] [PubMed] [Google Scholar]
- Berger J., Molzer B., Gieselmann V., Bernheimer H. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. Hum Genet. 1993 Oct;92(4):421–423. doi: 10.1007/BF01247349. [DOI] [PubMed] [Google Scholar]
- Gieselmann V. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Hum Genet. 1991 Jan;86(3):251–255. doi: 10.1007/BF00202403. [DOI] [PubMed] [Google Scholar]
- Gieselmann V., Zlotogora J., Harris A., Wenger D. A., Morris C. P. Molecular genetics of metachromatic leukodystrophy. Hum Mutat. 1994;4(4):233–242. doi: 10.1002/humu.1380040402. [DOI] [PubMed] [Google Scholar]
- 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. 1991 Jan 3;324(1):18–22. doi: 10.1056/NEJM199101033240104. [DOI] [PubMed] [Google Scholar]
- Thomas G. H. "Pseudodeficiencies" of lysosomal hydrolases. Am J Hum Genet. 1994 Jun;54(6):934–940. [PMC free article] [PubMed] [Google Scholar]