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

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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. 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.

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Acknowledgments

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

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Authors and Affiliations

  1. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Seoul National University Children’s Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 110-169, South Korea

    Jeana Hong, Jeong Kee Seo & Jae Sung Ko

  2. Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea

    Hae Il Cheong

  3. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea

    Jung-Hwan Choi

  4. Department of Pediatrics, Chosun University School of Medicine, Gwangju, South Korea

    Jae Hee Lee

  5. Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, South Korea

    Jeong Wan Seo

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  1. Jeana Hong
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  2. Jeong Kee Seo
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  3. Jae Sung Ko
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Correspondence to Jeong Kee Seo.

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Hong, J., Seo, J.K., Ko, J.S. et al. Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. Eur J Pediatr 172, 545–550 (2013). https://doi.org/10.1007/s00431-012-1905-3

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  • DOI: https://doi.org/10.1007/s00431-012-1905-3

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