Synonyms
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2184insA
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c.2052dupA
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p.Gln685ThrfsX4
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“frameshift mutation”
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“Class I mutation”
Key Related Entities
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CFTR gene: Central to cystic fibrosis pathology.
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Nonsense-mediated decay (NMD): Mechanism often triggered by frameshift mutations.
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Readthrough Agents: Compounds like Ataluren being studied for Class I mutation compensation.
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RNA-Targeted Therapies: Including ASOs and RNA editing technologies.
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Gene Therapy Trials: Emerging approaches seeking to address non-responsive mutations like 2184insA.
Standard Linking Requirements
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The mutation must link explicitly to:
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Molecular Pathology: Loss of full-length CFTR protein expression/function.
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Clinical Phenotypes: Including pancreatic insufficiency and high meconium ileus incidence.
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Research Milestones: Documentation of trials started, pivoted, or terminated.
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Note: Relationship formats must adhere to Step 6: Advanced Relationship Extraction & Typing specifications.