Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.
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.
Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea.
Eun-Sil
ES
Lee
Ah Ra
AR
Cho
Chang-Seok
CS
Ki
D044466:Asian People / Q000235:genetics*; D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense; D012326:RNA Splicing; D011859:Radiography; D056910:Republic of Korea; D000076988:Sulfate Transporters; D016216:Ultrasonography, Prenatal
D027963:Chloride-Bicarbonate Antiporters; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters