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Human disease phenotypes associated with mutations in TREX1.
Gillian I Rice1, Mathieu P Rodero, Yanick J Crow
1Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Journal of Clinical Immunology
|March 4, 2015
Summary
Mutations in the single exon TREX1 gene, encoding a 314 amino acid protein, lead to complex genotype-phenotype relationships. These genetic variations are linked to serious autoimmune and neurological disorders.
Area of Science:
- Genetics and Molecular Biology
- Immunology
- Neurology
Background:
- The TREX1 gene, a single exon gene, encodes a 314 amino acid protein.
- The genotype-phenotype landscape associated with TREX1 is notably complex.
- Mutations in TREX1 have been implicated in various human diseases.
Purpose of the Study:
- To briefly describe human diseases associated with mutations in the TREX1 gene.
- To highlight the complexity of genotype-phenotype correlations in TREX1-related disorders.
Main Methods:
- Literature review of TREX1 mutations and associated diseases.
- Analysis of genotype-phenotype data for TREX1-related conditions.
Main Results:
- TREX1 mutations are associated with Aicardi-Goutières syndrome.
- Familial chilblain lupus and systemic lupus erythematosus are linked to TREX1 mutations.
- Retinal vasculopathy with cerebral leukodystrophy is also associated with TREX1 gene variations.
Conclusions:
- TREX1 mutations represent a significant genetic factor in a spectrum of complex human diseases.
- Understanding TREX1 genotype-phenotype correlations is crucial for diagnosis and management of these conditions.
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