Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Hiroyuki Tsunoda, Toshio Ohshima, Jun Tohyama, Masayuki Sasaki, Norio Sakuragawa, Frank Martiniuk

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We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolishes the catalytic activity of the enzyme. Our data suggest that this mutation is the cause of the clinical manifestation known as adult-onset GAA deficiency. The missense mutation described here is a new mutation, and the first identified in Japanese patients with GAA deficiency.

Original languageEnglish
Pages (from-to)496-499
Number of pages4
JournalHuman Genetics
Issue number4
Publication statusPublished - 1996 Apr


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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