ArticleEuropean journal of human genetics : EJHG2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 49 citations in OpenAlex.
- 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
- 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
- Diet and Management of Diarrhea.Indian journal of pediatrics · 2024Review
- Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.Balkan journal of medical genetics : BJMG · 2024Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.Frontiers in pediatrics · 2023Article
- Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.Virchows Archiv : an international journal of pathology · 2022Review
- Lipid Metabolism in Glioblastoma: From De Novo Synthesis to Storage.Biomedicines · 2022Review
- Overview of Albumin Physiology and its Role in Pediatric Diseases.Current gastroenterology reports · 2021Review
- From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.Frontiers in physiology · 2021Review
- DGAT1 mutations leading to delayed chronic diarrhoea: a case report.BMC medical genetics · 2020Article
- DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.Journal of lipid research · 2019Article
- Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.Frontiers in genetics · 2019Review
- Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.American journal of human genetics · 2018Article
- Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase.Traffic (Copenhagen, Denmark) · 2018Article
- Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.Gastroenterology · 2018Article
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
Abstract
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in a single family. We hypothesize that mutations in this gene are responsible for undiagnosed cases of PLE in infancy. Here we investigated three children in two families presenting with severe diarrhea, hypoalbuminemia and PLE, using clinical studies, homozygosity mapping, and exome sequencing. In one family, homozygosity mapping using SNP arrays revealed the DGAT1 gene as the best candidate gene for the proband. Sequencing of all the exons including flanking regions and promoter regions of the gene identified a novel homozygous missense variant, p.(Leu295Pro), in the highly conserved membrane-bound O-acyl transferase (MBOAT) domain of the DGAT1 protein. Expression studies verified reduced amounts of DGAT1 in patient fibroblasts. In a second family, exome sequencing identified a previously reported splice site mutation in intron 8. These cases of DGAT1 deficiency extend the molecular and phenotypic spectrum of PLE, suggesting a re-evaluation of the use of DGAT1 inhibitors for metabolic disorders including obesity and diabetes.
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