An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

European Journal of Human Genetics

Volumn 12, Issue 2, 2004, Pages 150-154

  Regis, Stefano ^a   Corsolini, Fabio ^a   Ricci, Verena ^a   Di Duca, Marco ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Arylsulfatase A; Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

ARTICLE; CASE REPORT; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME GLYCOSYLATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; INTRON; MALE; METACHROMATIC LEUKODYSTROPHY; NUCLEOTIDE SEQUENCE; POLYADENYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; CEREBROSIDE-SULFATASE; CLONING, MOLECULAR; DNA PRIMERS; GENETIC VECTORS; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MOLECULAR SEQUENCE DATA; RNA SPLICING;

EID: 1342303603     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201100     Document Type: Article

References (13)

1. von Figura K, Gieselmann V, Jaeken J: Metachromatic leukodystrophy; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001, pp 3695-3724.
2. Gieselmann V, Polten A, Kreysing J, von Figura K: Arylsulfatase A pseudodeficiency: loss of polyadenylation signal and N-glycosylation site. Proc Natl Acad Sci USA 1989; 86: 9436-9440.
3. Baum H, Dogson KS, Spencer B: The assay of the arylsulfatase A and B in human urine. Clin Chim Acta 1959; 4: 453-455.
4. Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R: A 9bp deletion on the background of the arylsulfatase A pseudodeficiency allele in a late infantile metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. Hum Genet 1998; 102: 50-53.
5. Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M: Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum Genet 2002; 110: 351-355.
6. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V: Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991; 324: 18-22.
7. Zlotogora J, Furman-Shaharabani Y, Goldenfum S, Winchester B, von Figura K, Gieselmann V: Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype. Am J Med Genet 1994; 52: 146-150.
8. Harvey JS, Carey WF, Phillip Morris C: Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype. Hum Mol Genet 1998; 7: 1215-1219.
9. Ott R, Waye JS, Chang PL: Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. Hum Genet 1997; 101: 135-140.
10. 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 Inherit Metab Dis 1995; 18: 710-716.
11. Ricketts MH, Goldman D, Long JC, Manowitz P: Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype. Am J Med Genet 1996; 67: 387-392.
12. Gort L, Coll MJ, Chabas 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 patients. Hum Mutat 1999; 14: 240-248.
13. Penzien JM, Kappler J, Herschkowitz N et al: Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am J Hum Genet 1993; 52: 557-564.