Related Experiment Video
Updated: Aug 23, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
DGAT1 mutation in two sisters with failure to thrive: a case report
M Agustina Valentini1, Valeria A Fedrizzi1, Andrea G Krochik2
1Intermediate-Medium Care Unit; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Insights
Congenital diarrhea caused by diacylglycerol O-acyltransferase 1 (DGAT1) gene mutations is rare. This study identifies a novel Latin American case of DGAT1 deficiency in two sisters, expanding knowledge of this genetic enteropathy.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Molecular Biology
Background:
- Congenital diarrhea and enteropathies (CODEs) represent a group of rare monogenic disorders.
- Diacylglycerol O-acyltransferase 1 (DGAT1) gene mutations cause a rare enzyme disorder leading to severe, early-onset chronic diarrhea.
Observation:
- Two sisters presented with chronic diarrhea, vomiting, growth retardation, and hypoalbuminemia in early childhood.
- Both patients were diagnosed with a compound heterozygous DGAT1 mutation.
Findings:
- The identified DGAT1 mutation, previously documented in Asian populations, is reported for the first time in Latin American patients.
- This finding highlights the genetic diversity and geographic spread of DGAT1 mutations.
Implications:
- These cases contribute to a broader understanding of congenital diarrhea and DGAT1-related enteropathies.
- Further research into DGAT1 mutations can improve diagnosis and management strategies for affected children globally.
Abstract:
Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.
Related Concept Videos
01:27Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:20Inborn Errors of Metabolism
01:43Incomplete Dominance
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
02:59Animal Mitochondrial Genetics