ArticleMolecular genetics & genomic medicine2021
SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 9 citations in OpenAlex.
- Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features.Inflammatory bowel diseases · 2026Article
- Chronic Diarrhoea in Children: The Role of SLC10A2 Gene in Primary Malabsorption of Biliary Acid.Acta paediatrica (Oslo, Norway : 1992) · 2026Article
- Homozygosity for a variant inJPGN reports · 2025Article
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Modeling the cell biology of monogenetic intestinal epithelial disorders.The Journal of cell biology · 2024Review
- Misinterpreting Diarrhea-Predominant Irritable Bowel Syndrome and Functional Diarrhea: Pathophysiological Highlights.Journal of clinical medicine · 2023Review
- New Developments in Bile Acid Diarrhea.Gastroenterology & hepatology · 2023Article
- Development of an immune-related gene prognostic risk model and identification of an immune infiltration signature in the tumor microenvironment of colon cancer.BMC gastroenterology · 2023Article
- SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDiarrhea is a common occurrence in children below the age of 5 years. In chronic cases, it induces malnutrition that severely stunts growth. Bile acid diarrhea (BAD), caused by malabsorption of bile acid (BA), is a rare form of chronic diarrhea seldom observed in pediatric patients. Here, we present a clinical report on a novel case of chronic BAD, with severe stunting in an infant, induced by a homozygous mutation of SLC10A2.
methodsWe performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of SLC10A2 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.
resultsThe patient's clinical manifestations were chronic diarrhea with increased BAs in the feces and extreme stunting, which was diagnosed as BAD. A homozygous mutation of SLC10A2 at the c.313T>C (rs201206937) site was detected.
conclusionOur report reveals the youngest case illustrating the characteristics of BAD induced by genetic variant at 313T>C, and the second case entailing a clear association between a SLC10A2 genetic mutation and the onset of BAD. Our findings expand the mutant spectrum of the SLC10A2 gene and contribute to the refinement of the genotype-phenotype mapping of severe stunting induced by pediatric BAD. Moreover, they highlight the value of molecular genetic screening for diagnosing BAD in young patients.
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