title: A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
abstract: We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia and inflammatory bowel disease. Mutation analysis of the glucose 6-phosphate translocase 6-phosphate translocase (SLC37A4) gene revealed that the patient was a compound heterozygote of two different mutations including a deletion mutation (c.1042_1043delCT; L348fs) and a missense mutation (A148V). The L348fs mutation was inherited from the patient's father and has been reported in an Italian family with GSD-1b, while the A148V mutation was transmitted from the patient's mother and was a novel mutation. To the best of our knowledge, this is the first report of genetically confirmed case of GSD-1b in Korean.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sung-Hee
authors.initials: SH
authors.lastname: Han
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Young-Jin
authors.initials: YJ
authors.lastname: Hong
authors.forename: Byong-Kwan
authors.initials: BK
authors.lastname: Son
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Lee
authors.forename: Yon-Ho
authors.initials: YH
authors.lastname: Choe
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D017920:Antiporters; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007723:Korea; D009004:Monosaccharide Transport Proteins; D020125:Mutation, Missense; D010770:Phosphotransferases / Q000235:genetics*
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D004247:DNA; D010770:Phosphotransferases