Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
Annals of Laboratory Medicine
;
: 312-315, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-47744
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Splicing de RNA
/
Ultrassonografia Pré-Natal
/
Mutação de Sentido Incorreto
/
Antiportadores de Cloreto-Bicarbonato
/
Povo Asiático
/
Diarreia
/
República da Coreia
/
Heterozigoto
/
Erros Inatos do Metabolismo
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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