title: Genetic basis of Bartter syndrome in Korea.
abstract: BACKGROUND
  Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V).
  
  
  METHODS
  Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated.
  
  
  RESULTS
  The clinical diagnosis was aBS in 8 (30.8%), cBS in 15 (57.7%) and mixed Bartter-Gitelman phenotype in 3 cases (11.5%). Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter-Gitelman phenotype had CLCNKB mutations. Among the 23 patients (46 alleles) with CLCNKB mutations, p.W610X and large deletions were detected in 25 (54.3%) and 10 (21.7%) alleles, respectively. There was no genotype-phenotype correlation in patients with CLCNKB mutations.
  
  
  CONCLUSIONS
  Twenty-three (88.5%) of the 26 BS patients involved in this study had CLCNKB mutations. The p.W610X mutation and large deletion were two common types of mutations in CLCNKB. The clinical manifestations of BS III were heterogeneous without a genotype-phenotype correlation, typically manifesting cBS phenotype but also aBS or mixed Bartter-Gitelman phenotypes. The molecular diagnostic steps for patients with BS in our population should be designed taking these peculiar genotype distributions into consideration, and a new more clinically relevant classification including BS and Gitelman syndrome is required.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, and Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Hee Yeon
authors.initials: HY
authors.lastname: Cho
authors.forename: HyunKyung
authors.initials: H
authors.lastname: Lee
authors.forename: Kyoung Hee
authors.initials: KH
authors.lastname: Han
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Joo Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Young Seo
authors.initials: YS
authors.lastname: Park
authors.forename: Jae Il
authors.initials: JI
authors.lastname: Shin
authors.forename: Dae-Yeol
authors.initials: DY
authors.lastname: Lee
authors.forename: Su-Yung
authors.initials: SY
authors.lastname: Kim
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D017668:Age of Onset; D001477:Bartter Syndrome / Q000235:genetics*; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D056910:Republic of Korea
chemical_list: C412733:CLCNKB protein, human; D018118:Chloride Channels; D004247:DNA