Identifcation of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea

Abstract

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-/HCO3- 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 confrmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identifed 2 sequence variants: a missense variant of unknown signifcance (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 diffcult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confrm a diagnosis of CLD in Korean infants with persistent diarrhea. © The Korean Society for Laboratory Medicine.