Send to

Choose Destination
Ann Lab Med. 2012 Jul;32(4):312-5. doi: 10.3343/alm.2012.32.4.312. Epub 2012 Jun 20.

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

Author information

Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea.


Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl(-)/HCO(3)(-) exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.


Congenital chloride diarrhea; Mutation; SLC26A3 gene

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for The Korean Society for Laboratory Medicine Icon for PubMed Central
Loading ...
Support Center