ArticleMolecular genetics & genomic medicine2020
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 4 citations in OpenAlex.
- Case Report: Congenital chloride diarrhea in a prepubertal girl with perianal fistula and colonic ulcers.Frontiers in pediatrics · 2026Article
- A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.Molecular genetics & genomic medicine · 2025Review
- Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.BMC pediatrics · 2024Article
- Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.World journal of pediatrics : WJP · 2023Article
- Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.The American journal of case reports · 2022Review
- A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
7 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)-rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl
methodsClinical and laboratory findings during the perinatal period were obtained retrospectively from medical records. Mutations involving SLC26A3 were detected by Sanger sequencing.
resultsThe male infant reported here was delivered at 29 weeks of gestation. Just after birth, he had watery diarrhea without meconium passage. High chloride concentrations in the diarrhea led to a diagnosis of CCD. Direct sequencing of all coding exons in SLC26A3 including exon-intron boundaries disclosed 2 compound heterozygous mutations: c.382G>A, p.G128S and c.2063-1g>t. The c. 2063-1g>t mutation was confirmed in his mother's DNA, but c.382G>A, p.G128S was absent in both mother and father.
conclusionWe concluded that c.382G>A, p.G128S represented a de novo mutation of SLC26A3, a very rare event in autosomal recessive disorders. To our knowledge, this is the first CCD case involving a de novo novel mutation of SLC26A3.
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