Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424.

Abstract

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C-->T transition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cerebroside-Sulfatase / chemistry
  • Cerebroside-Sulfatase / genetics*
  • Cerebroside-Sulfatase / metabolism
  • Exons / genetics
  • Genes, Recessive / genetics
  • Humans
  • Infant
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics*
  • Male
  • Molecular Sequence Data
  • Point Mutation / genetics
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Secondary
  • Sequence Deletion / genetics*

Substances

  • Cerebroside-Sulfatase

Associated data

  • GENBANK/X82845