ArticleThe Journal of clinical investigation2012
DGAT1 mutation is linked to a congenital diarrheal disorder.
Article in The Journal of clinical investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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Who cites it
81 citing papers in PubMed, 157 citations in OpenAlex.
- Phenotypic and genotypic characterization of DGAT1 deficiency in pediatric patients with congenital diarrhea and enteropathy.Gastroenterology report · 2026Article
- Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases.Frontiers in pediatrics · 2026Article
- Combined Genetic and Transcriptional Study Unveils the Role ofBiomedicines · 2025Article
- Essential Biology of Lipid Droplets.Annual review of biochemistry · 2025Review
- DGAT-1 deficiency: Congenital diarrhea and dietary treatment.JPGN reports · 2025Article
- The Genetic Architecture of Congenital Diarrhea and Enteropathy.The New England journal of medicine · 2025Article
- Zebrafish are resilient to the loss of major diacylglycerol acyltransferase enzymes.The Journal of biological chemistry · 2024Article
- Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.BMC medical genomics · 2024Review
- A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.Lipids in health and disease · 2024Article
- Congenital Diarrhoeas and Enteropathies.Nutrients · 2024Review
- Modeling the cell biology of monogenetic intestinal epithelial disorders.The Journal of cell biology · 2024Review
- Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Rotavirus-mediated DGAT1 degradation: A pathophysiological mechanism of viral-induced malabsorptive diarrhea.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- DGAT inhibition at the post-absorptive phase reduces plasma FA by increasing FA oxidation.EMBO molecular medicine · 2023Article
- Host fecal DNA specific methylation signatures mark gut dysbiosis and inflammation in children affected by autism spectrum disorder.Scientific reports · 2023Article
- Lipid droplet biogenesis and functions in health and disease.Nature reviews. Endocrinology · 2023Review
- Pharmacogenomics: current status and future perspectives.Nature reviews. Genetics · 2023Review
- Glycerolipid Synthesis and Lipid Droplet Formation in the Endoplasmic Reticulum.Cold Spring Harbor perspectives in biology · 2023Review
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish descent, with 2 out of 3 children affected by CDD. Both affected children presented 3 days after birth with severe, intractable diarrhea. One child died from complications at age 17 months. The second child showed marked improvement, with resolution of most symptoms at 10 to 12 months of age. Using exome sequencing, we identified a rare splice site mutation in the DGAT1 gene and found that both affected children were homozygous carriers. Molecular analysis of the mutant allele indicated a total loss of function, with no detectable DGAT1 protein or activity produced. The precise cause of diarrhea is unknown, but we speculate that it relates to abnormal fat absorption and buildup of DGAT substrates in the intestinal mucosa. Our results identify DGAT1 loss-of-function mutations as a rare cause of CDDs. These findings prompt concern for DGAT1 inhibition in humans, which is being assessed for treating metabolic and other diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.