title: Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
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.
authors.affiliation: Department of Inherited Metabolic Diseases, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tsunoda
authors.forename: T
authors.initials: T
authors.lastname: Ohshima
authors.forename: J
authors.initials: J
authors.lastname: Tohyama
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
authors.forename: F
authors.initials: F
authors.lastname: Martiniuk
mesh_terms: D000328:Adult; D001483:Base Sequence; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000520:alpha-Glucosidases
chemical_list: D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase