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

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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
Volume97
Issue number4
DOIs
Publication statusPublished - 1996 Apr
Externally publishedYes

Fingerprint

Glycogen Storage Disease Type II
Missense Mutation
Phenotype
Mutation
Amino Acid Substitution
Exons
Nucleotides
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Acid alpha-glucosidase deficiency : Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. / Tsunoda, Hiroyuki; Ohshima, Toshio; Tohyama, Jun; Sasaki, Masayuki; Sakuragawa, Norio; Martiniuk, Frank.

In: Human Genetics, Vol. 97, No. 4, 04.1996, p. 496-499.

Research output: Contribution to journalArticle

Tsunoda, Hiroyuki ; Ohshima, Toshio ; Tohyama, Jun ; Sasaki, Masayuki ; Sakuragawa, Norio ; Martiniuk, Frank. / Acid alpha-glucosidase deficiency : Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. In: Human Genetics. 1996 ; Vol. 97, No. 4. pp. 496-499.
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