Related Experiment Video
Updated: Jun 9, 2025
28:15
Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 28, 2010
12.3K
PERCC1 -Related Congenital Enteropathy
Lena S Kerle1, Pia Karlsland Åkeson2, Thomas Müller1
1Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Clinical Genetics
|October 30, 2024
Insights
Fourteen patients have been identified with nonsyndromic enteropathy linked to PERCC1 gene mutations. This rare genetic disorder necessitates lifelong parenteral nutrition support for affected individuals.
Area of Science:
- Genetics
- Gastroenterology
- Pediatrics
Background:
- Nonsyndromic enteropathy is a rare condition affecting the small intestine.
- Genetic mutations in the PERCC1 gene are implicated in its pathogenesis.
- Current understanding of PERCC1 mutations is limited, with only 14 cases reported.
Purpose of the Study:
- To summarize the known cases of nonsyndromic enteropathy associated with PERCC1 gene alterations.
- To highlight the clinical implications and management challenges of this condition.
Main Methods:
- Literature review of reported cases.
- Analysis of genetic data from affected individuals.
- Review of clinical management strategies.
Main Results:
- Fourteen patients with biallelic deletions or truncating mutations in PERCC1 have been identified.
- PERCC1 mutations lead to severe intestinal dysfunction requiring parenteral nutrition.
- The PERCC1 gene is annotated in the GRCh38 reference sequence in gnomAD.
Conclusions:
- PERCC1-related nonsyndromic enteropathy is a severe, rare genetic disorder.
- Lifelong parenteral nutrition is essential for managing affected children and adolescents.
- Further research is needed to understand PERCC1 function and explore potential therapeutic targets.
Abstract:
A total of 14 patients are known with the nonsyndromic enteropathy caused by biallelic deletions (∆L and ∆S) or truncating mutations affecting PERCC1 or its adjacent regulatory region. PERCC1 is so far in gnomAD only annotated in the GRCh38 reference sequence. Parenteral nutrition is required throughout childhood and often in adolescence.
Related Concept Videos
01:27Protein Import into the Peroxisomes
3.4K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
3.4K
01:20Inborn Errors of Metabolism
139
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
139
01:23Cystic Fibrosis: Pathogenesis
192
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
192
01:33Pleiotropy
40.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.0K
01:26Endoscopic Procedures V: ERCP
117
Endoscopic Retrograde Cholangiopancreatography (ERCP) is a diagnostic procedure that combines endoscopy and fluoroscopy to diagnose and treat conditions related to the bile ducts, pancreatic ducts, and gallbladder. This procedure is beneficial for identifying and addressing blockages, gallstones, strictures, and tumors within the biliary or pancreatic systems. ERCP is both diagnostic and therapeutic, offering the ability to visualize and treat identified problems in one session.
Patient...
Patient...
117
01:58Cell Specific Gene Expression
13.5K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.5K