title: Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.
abstract: Congenital chloride diarrhea (CLD, OMIM#214700) is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal chloride/bicarbonate exchanger. While more than 50 mutations have been identified throughout the world, there have been no data on the genetic characteristics of the patients of East Asian ethnic origin. In this study, we performed genetic analysis by direct sequencing of the 20 exons and parts of exon-intron boundaries of the SLC26A3 gene in eight patients of Korean origin with non-consanguineous parents. We identified three novel mutations, including two splice-site mutations (c.2063-1G>T in intron 18, c.1047+3 A>C in intron 12) and one missense mutation (p.Ser134Asn in exon 5). One previously identified mutation was also found (p.Pro131Leu in exon 5). The most common mutation was c.2063-1G>T, which was found in at least one allele of all patients.
  
  
  CONCLUSIONS
  This is the first report to demonstrate the genetic background of CLD in a single ethnic group of East Asian descent. The c.2063-1G>T mutation could be suggested as a founder mutation in Korean population so that the targeting sequencing for the mutation would be a cost-efficient screening method to confirm a diagnosis of CLD in patients of Korean descent.
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-169, South Korea.
authors.forename: Jeana
authors.initials: J
authors.lastname: Hong
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Jung-Hwan
authors.initials: JH
authors.lastname: Choi
authors.forename: Jae Hee
authors.initials: JH
authors.lastname: Lee
authors.forename: Jeong Wan
authors.initials: JW
authors.lastname: Seo
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics*; D003967:Diarrhea / Q000151:congenital* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007723:Korea; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017421:Sequence Analysis; D000076988:Sulfate Transporters
chemical_list: D027963:Chloride-Bicarbonate Antiporters; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters