Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea.
10.3343/alm.2012.32.4.312
- Author:
Eun Sil LEE
1
;
Ah Ra CHO
;
Chang Seok KI
Author Information
1. Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea.
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Congenital chloride diarrhea;
SLC26A3 gene;
Mutation
- MeSH:
Asian Continental Ancestry Group/*genetics;
Chloride-Bicarbonate Antiporters/*genetics;
DNA Mutational Analysis;
Diarrhea/*congenital/diagnosis/genetics/radiography;
Heterozygote;
Humans;
Infant;
Male;
Metabolism, Inborn Errors/*diagnosis/genetics/radiography;
Mutation;
Mutation, Missense;
RNA Splicing;
Republic of Korea;
Ultrasonography, Prenatal
- From:Annals of Laboratory Medicine
2012;32(4):312-315
- CountryRepublic of Korea
- Language:English
-
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 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.
