https://scholars.lib.ntu.edu.tw/handle/123456789/195598
標題: | Identification of Eight Novel Mutations of the Acid Alpha-Glucosidase Gene Causing the Infantile or Juvenile Form of Glycogen Storage Disease Type Ii | 作者: | WAN, LEI LEE, CHENG-CHUN HSU, CHIN-MOO HWU, WUH-LIANG YANG, CHIH-CHAO TSAI, CHANG-HAI TSAI, FUU-JEN |
關鍵字: | glycogen storage disease type II;Pompe disease;acid alpha- glucosidase;novel mutation;mutation analysis | 公開日期: | 2008 | 卷: | v.255 | 期: | n.6 | 起(迄)頁: | 831-838 | 來源出版物: | JOURNAL OF NEUROLOGY | 摘要: | Glycogen-storage disease type II (GSDII; OMIM #232300), an autosomal recessive disorder caused by a deficiency of the glycogen hydrolysis enzyme acid alpha-glucosidase (acid GAA; acid maltase, EC. 3.2.10.20), results in the accumulation of glycogen in the lysosome. We performed a molecular genetic study on 29 patients with infantile-onset glycogen- storage disease type II (GSDII), 6 with juvenile-onset GSDII and one carrier for GSDII. Seventeen different mutations were identified among them; 8 were novel mutations: c.421C > A (p.L141M), c.872T > C (p.L291P), c.893A > C (p.Y298S), c. 1375G > A (p.D459N), c.1437G > C (p.K479N), c. 1509_1511del ( p.A504del), c.1960T > C (p.S654P), and c.2174G > C (p.R725P ) . One of the mutations identified, c.2238G > C (p.W746C), which was a sequence change of unknown pathogenic significance causing diminished enzyme activity,was found homozygously in a juvenile-onset patient. We also found a juvenile-onset patient with homozygote c.1935C > A mutation which was frequently found in infantile-onset patients. In addition to mutations, we also identified 14 new polymorphisms in the acid alpha- glucosidase gene. The genotype/phenotype correlations indicated that c. 2238G > C ( p.W746C) is correlated with juvenile- onset GSDII and that c . 872T > C (p.L291P) and c.1411_1414del (p.E471fsX5) are correlated with infantile-onset GSDII. Mutational analysis of GAA is useful in genetic counseling and prenatal diagnosis of the disease. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/186778 |
顯示於: | 醫學系 |
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