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http://asiair.asia.edu.tw/ir/handle/310904400/8364
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| Title: | Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II |
| Authors: | Wan, L (Wan, Lei);Lee, CC (Lee, Cheng-Chun);Hsu, CM (Hsu, Chin-Moo);Hwu, WL (Hwu, Wuh-Liang);Yang, CC (Yang, Chih-Chao);Tsai, CH (Tsai, Chang-Hai);Tsai, FJ (Tsai, Fuu-Jen) |
| Contributors: | Department of Biotechnology |
| Keywords: | glycogen storage disease type II;Pompe disease;acid alpha-glucosidase;novel mutation;mutation analysis;POMPE-DISEASE;FREQUENT MUTATION;CHINESE PATIENTS;DELETION;EXON-18;TAIWAN |
| Date: | 2008-06 |
| Issue Date: | 2010-03-26 02:30:06 (UTC+0) |
| Publisher: | Asia University |
| Abstract: | 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 11 (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 juve-nile-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. |
| Relation: | JOURNAL OF NEUROLOGY, 255 (6): 831-838 |
| Appears in Collections: | [生物科技學系] 期刊論文
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| 260.docx | | 0Kb | Unknown | 395 | View/Open | | 260.doc | | 36Kb | Microsoft Word | 272 | View/Open |
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