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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
Summary
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.
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