Congenital chloride diarrhea in Korean children: Novel mutations and genetic characteristics

Jeana Hong, Jeong Kee Seo, Jae Sung Ko, Hae Il Cheong, Jung Hwan Choi, Jae Hee Lee, Jeong Wan Seo

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12 Scopus citations


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. Conclusion: 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.

Original languageEnglish
Pages (from-to)545-550
Number of pages6
JournalEuropean Journal of Pediatrics
Issue number4
StatePublished - Apr 2013

Bibliographical note

Funding Information:
Acknowledgments This study was supported by a grant of the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (A120017).


  • Chronic diarrhea
  • Congenital chloride diarrhea
  • Mutation
  • Sequence analysis
  • SLC26A3


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