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

Title
Congenital chloride diarrhea in Korean children: Novel mutations and genetic characteristics
Authors
Hong J.Seo J.K.Ko J.S.Cheong H.I.Choi J.-H.Lee J.H.Seo J.W.
Ewha Authors
서정완
SCOPUS Author ID
서정완scopus
Issue Date
2013
Journal Title
European Journal of Pediatrics
ISSN
0340-6199JCR Link
Citation
vol. 172, no. 4, pp. 545 - 550
Indexed
SCI; SCIE; SCOPUS WOS scopus
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. © Springer-Verlag Berlin Heidelberg 2012.
DOI
10.1007/s00431-012-1905-3
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의과대학 > 의학과 > Journal papers
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