title: A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
abstract: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder that is characterized by the excessive accumulation of abnormal glycogen in the liver and muscles and is caused by a deficiency in glycogen debranching enzyme (amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL)) activity. To investigate the molecular characteristics of GSD III patients in Korea, we have sequenced the AGL gene in eight children with GSD III. All patients were compound heterozygotes. We identified 10 different mutations (five novel and five previously reported). The novel mutations include one nonsense (c.1461G>A, p.W487X), three splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and one missense mutation (c.2591G>C, p.R864P). Together, p.R285X, c.1735+1G>T and p.L1139P accounted for 56% of all alleles, while the remaining mutations are heterogeneous. These three mutations can be common in Korea, and further larger studies are needed to confirm our findings.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Moon
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jeong Kee
authors.identifier: 0000000230642974
authors.initials: JK
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Ju Young
authors.initials: JY
authors.lastname: Chang
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D000293:Adolescent; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D006004:Glycogen Debranching Enzyme System / Q000737:chemistry / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D056910:Republic of Korea; D016415:Sequence Alignment
chemical_list: D006004:Glycogen Debranching Enzyme System; C020569:4 alpha-glucanotransferase; C030563:amylo-1,6-glucosidase