P.D645E of acid α-glucosidase is the most common mutation in Thai patients with infantile-onset Pompe disease

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 6, 2010, Pages 835-837

  Amarinthnukrowh, Pramuk ^a,b   Tongkobpetch, Siraprapa ^a,b   Kongpatanayothin, Apichai ^a   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; DNA EXTRACTION; GENE MUTATION; GENETIC POLYMORPHISM; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; HUMAN; INFANTILE ONSET POMPE DISEASE; LEUKOCYTE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA EXTRACTION; THAILAND;

ALPHA-GLUCOSIDASES; AMINO ACID SUBSTITUTION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MALE; MUTATION;

EID: 78650350116     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0038     Document Type: Article

References (9)

1. Becker JA, Vlach J, Raben N, et al. (1998) The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am J Hum Genet 62:991-994.
2. Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II (GSDII). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 3389-3420.
3. Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, et al. (1990) Characterization of the human lysosomal alpha-glucosidase gene. Biochem J 272:493-497.
4. Kroos MA, Mullaart RA, Van Vliet L, et al. (2008) p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet 16:875-879.
5. Kuo WL, Hirschhorn R, Huie ML, et al. (1996) Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Hum Genet 97:404-406.
6. Montalvo AL, Bembi B, Donnarumma M, et al. (2006) Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat 27:999-1006.
7. Pipo JR, Feng JH, Yamamoto T, et al. (2003) New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol 29:284-287.
8. Shieh JJ, Lin CY (1998) Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. Hum Mutat 11:306-312.
9. Suzuki Y, Tsuji A, Omura K, et al. (1988) Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement. Clin Genet 33:376-385.