title: Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
abstract: BACKGROUND
  Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.
  
  
  METHODS
  Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted.
  
  
  RESULTS
  Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib. Among them, four novel mutations were identified: c.148G>A (pGly50Arg), c.320G>A (p.Trp107*), c.412T>C (p.Trp138Arg), and c.818G>A (p.Gly273Asp). The most common mutation type was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) and small deletion mutations (11.1%, 1/9). The most common mutation identified in the Korean population was c.443C>T (p.Ala148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD Ib patients in other ethnic populations.
  
  
  CONCLUSIONS
  This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD Ib.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Rihwa
authors.initials: R
authors.lastname: Choi
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. nayadoo@hanmail.net.
authors.forename: Hyung Doo
authors.initials: HD
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea.
authors.forename: Jeongho
authors.initials: J
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea.
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.
authors.forename: Suk Jin
authors.initials: SJ
authors.lastname: Hong
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Soo Youn
authors.initials: SY
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jong Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. songjhcp@snu.ac.kr.
authors.forename: Junghan
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Yon Ho
authors.initials: YH
authors.lastname: Choe
mesh_terms: D000483:Alleles; D017920:Antiporters / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D005838:Genotype; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D017384:Sequence Deletion
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human
keywords: GSD Ib; Glycogen storage disease; Korean population; SLC37A4; mutation