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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 10:30:06 (UTC+8)
    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., 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:[Department of Biotechnology] Journal Article

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