Characterization of new arylsulfatase a gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

Human Mutation

Volumn 30, Issue 10, 2009, Pages E936-E945

  Cesani, Martina ^a,b   Capotondo, Alessia ^a,c   Plati, Tiziana ^a   Sergi, Lucia Sergi ^a   Fumagalli, Francesca ^b,c   Roncarolo, Maria Grazia ^a,c   Naldini, Luigi ^a,c   Comi, Giancarlo ^b,c   Sessa, Maria ^a,b   Biffi, Alessandra ^a  

^a SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

ARSA; Arylsulfatase A; Genotype phenotype correlation; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

ANIMAL; ARTICLE; ENZYMOLOGY; GENETICS; GENOTYPE; HELA CELL; HUMAN; METACHROMATIC LEUKODYSTROPHY; MOUSE; MOUSE MUTANT; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

ANIMALS; CEREBROSIDE-SULFATASE; GENOTYPE; HELA CELLS; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MICE; MICE, KNOCKOUT; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 73349094734     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21093     Document Type: Article

References (30)

1. Berger J, Loschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B. 1997. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. Am J Med Genet. 69(3):335-40.
2. Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J. 2004. Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. Am J Med Genet 129A:277-281.
3. Biffi A, Cesani M, Fumagalli F, Del Carro U, Baldoli C, Canale S, Gerevini S, Amadio S, Falautano M, Rovelli A and others. 2008. Metachromatic leukodystrophy-mutation analysis provides further evidence of genotype-phenotype correlation. Clinical Genetics 74(4):349-57.
4. Capotondo A, Cesani M, Pepe S, Fasano S, Gregori S, Tononi L, Venneri MA, Brambilla R, Quattrini A, Ballabio A and others. 2007. Safety of Arylsulfatase A Overexpression for Gene Therapy of Metachromatic Leukodystrophy. Hum Gene Ther 18:821-836.
5. Conzelmann E, Sandhoff K. 1983-1984. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 6(1):58-71.
6. Follenzi A, Sabatino G, Lombardo A, Boccaccio C, Naldini L. 2002. Efficient gene delivery and targeted expression to hepatocytes in vivo by improved lentiviral vectors. Hum Gene Ther. 13(2):243-60.
7. Gieselmann V. 2005. What can cell biology tell us about heterogeneity in lysosomal storage diseases? Acta Paediatr Suppl. 94(447):80-6.
8. Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K. 1991. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet. 49(2):407-13.
9. Gieselmann V, Polten A, Kreysing J, von Figura K. 1989. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc Natl Acad Sci U S A 86(23):9436-40.
10. Gort L, Coll MJ, Chabis A. 1999. 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 14:240-248.
11. Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V and others. 2008. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat 29(11):E220-30.
12. Gustavson KH, Hagberg B. 1971. The incidence and genetics of metachromatic leukodystrophy in northern Sweden. Acta Paediatr. Scand. 60:585.
13. Hermann S, Schestag F, Polten A, Kafert S, Penzien J, Zlotogora J, Baumann N, Gieselmann V. 2000. Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. Am J Med Genet 91(1):68-73.
14. Hess, B., Saftig P, Hartmann D, Coenen R, Lullmann-Rauch R, Goebel HH, Evers M, von Figura K, D'Hooge R, Nagels G and others. 1996. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc. Natl. Acad. Sci. USA 93:14821-14826.
15. Holve S, Hu D, McCandless SE. 2001. Metachromatic leukodystrophy in the Navajo: Fallout of the America-Indian Wars of the Nineteenth Century. Am. J. Med. Genetics 101:203-8.
16. Kappler J, Leinekugel P, Conzelmann E, Kleijer WJ, Kohlschutter A, Tonnesen T, Rochel M, Freycon F, Propping P. 1991. Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. Hum Genet 86(5):463-70.
17. Kappler J, von Figura K, Gieselmann V. 1992. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann Neurol 31(3):256-61.
18. Kolodny EH. 1996. Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis. In: Rosenberg RN PS, Di Mauro S, Barchi RL, eds., editor. The Molecular and Genetic Basis of Neurological Diseases. Boston: Butterworth-Heinemann. p 433.
19. Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin JC, Baumann N, von Figura K, Gieselmann V. 1993. High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. Am J Hum Genet. 53(2):339-46.
20. Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A, Consortium. GD. 2008. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 29(6):E13-26.
21. Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W and others. 2005. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Mol Genet Metab. 86(3):353-9.
22. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcao A and others. 2004. Prevalence of lysosomal storage diseases in Portugal. Eur. J. Hum. Genet. 12(2):87-92.
23. Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V. 2005. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J 272(5):1179-88.
24. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V. 1991. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324(1):18-22.
25. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 105(1-2):151-6.
26. Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S and others. 2006. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology 67(5):859-63.
27. Schaefer E, Mehta A, Gal A. 2005. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 94(447):87-92.
28. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. 1995. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 6(4):288-302.
29. Sommerlade HJ, Hille-Rehfeld A, von Figura K, Gieselmann V. 1994. Four monoclonal antibodies inhibit the recognition of arylsulphatase A by the lysosomal enzyme phosphotransferase. Biochem J. 297:123-130.
30. von Figura K, Jaeken J. 2001. Metachromatic Leukodystrophy. In: Scriver C.R. BAL, Valle D., Sly W.S., eds., editor. The Metabolic and Molecular Bases of Inherited Diseases. New York: Mac Graw-Hill. p 3695-3724