title: Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
abstract: BACKGROUND
  Glycogen storage disease II (GSD II) is caused by a deficiency of acid alpha-1,4-glucosidase and mutations in the GAA gene encoding this enzyme which are responsible for the pathogenesis of GSD II. Our goal was to determine the mutational spectrum in the GAA gene in Korean patients with GSD II.
  
  
  METHODS
  Three patients with GSD II were recruited based on clinical and biochemical findings. Alpha-1,4-glucosidase activity was determined and the GAA gene sequence was analyzed by PCR and sequencing. We also collected information about the genotypes of Korean patients with GSD II from the medical literature.
  
  
  RESULTS
  We identified six mutant alleles among the three GSD II patients: c.875A>G, c.1156C>T, c.1316T>A, c.1857C>G, and c2407_2412del7. c.1156C>T (Q386*) is a novel mutation. A comprehensive review of the literature revealed that a total of 29 mutant alleles, including 15 different mutations (10 missense, 3 deletion, and 2 nonsense mutations), were previously identified in 15 Korean GSD II patients. c.1316T>A (p.M439K) and c.1857C>G (p.S619R) were the most common mutations and accounted for 36.6% of the total mutant alleles.
  
  
  CONCLUSIONS
  We identified three GSD II patients and investigated the mutational spectrum in GAA in Korean patients with GSD II. Our results indicate that common mutations in the GAA gene vary according to ethnic background.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, 135-710, Korea.
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Lee
authors.forename: Tae-Youn
authors.initials: TY
authors.lastname: Choi
authors.forename: You Kyoung
authors.initials: YK
authors.lastname: Lee
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Yong-Wha
authors.initials: YW
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002648:Child; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D015316:Genetic Therapy; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D056910:Republic of Korea; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D004247:DNA; C509951:GAA protein, human; D000520:alpha-Glucosidases
keywords: GAA; Glycogen storage disease II; Korean; novel mutation