Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype |
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| Authors: | Hiroyuki Tsunoda Toshio Ohshima Jun Tohyama Masayuki Sasaki Norio Sakuragawa Frank Martiniuk |
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| Affiliation: | (1) Department of Inherited Metabolic Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, Kodaira, Tokyo, 187 Japan, Tel.: (423)41-2711, ext. 5151; Fax: (423)46-1746, JP;(2) Pulmonary Division, Department of Medicine, New York University Medical Center, New Bellevue 6N5-8, New York, NY 10016, USA, US |
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| 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. Received: 23 May 1995 |
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