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Human Genetics

, Volume 93, Issue 3, pp 259–264 | Cite as

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

  • Elena Voskoboeva
  • Dirk Isbrandt
  • Kurt von Figura
  • Xenia Krasnopolskaya
  • Christoph Peters
Original Investigations

Abstract

Mucopolysaccharidosis type VI (MPSVI, Maroteaux-Lamy syndrome) is a lysosomal storage disease for which multiple clinical phenotypes have been described. A deficiency of the enzyme arylsulfatase B (ASB, N-acetylgalactosamine-4-sulfatase) is the cause of this autosomal recessively inherited disorder. The genotypes of two patients with an intermediate form of MPSVI have been determined by polymerase chain reaction (PCR) amplification of the entire open reading frame of the ASB gene and subsequent direct sequencing of both strands of the PCR fragments by an automated nonradioactive approach. In patient A, a C to T transition in allele I resulting in an exchange of the Arg codon 160 for a premature stop codon (R160*, exon 2), and a G to A transition in allele II leading to a Gln to Arg160 substitution (R160Q, exon 2) were detected. Patient B exhibited a 7-bp deletion in exon 1 of allele I resulting in a frame shift and a premature stop codon 33 triplets 3′ of the site of deletion (ΔG237-C243), and a C to T transition in allele II giving rise to a Trp to Arg152 substitution (R152W, exon 2). None of these four mutant alleles was present among 60 alleles of the ASB gene in unrelated controls, indicating that the former are not polymorphisms. These results emphasize the broad molecular heterogeneity of Maroteaux-Lamy syndrome and contribute to the establishment of a genotype/phenotype correlation in this disease.

Keywords

Mutant Allele Intermediate Form Premature Stop Codon Polymerase Chain Reaction Fragment Arylsulfatase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Elena Voskoboeva
    • 1
  • Dirk Isbrandt
    • 2
  • Kurt von Figura
    • 2
  • Xenia Krasnopolskaya
    • 1
  • Christoph Peters
    • 2
  1. 1.Research Centre for Medical Genetics, Russian Academy of Medical SciencesMoscowRussia
  2. 2.Biochemie II, Universität GöttingenGöttingenGermany

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