Abstract 620: Identification of Novel ABCA1 Mutations in Families With Tangier Disease
Bibliographic record
Abstract
Tangier disease is an extremely rare, autosomal recessive disorder caused by mutations in the ABCA1 gene, and is characterized by near absence of plasma high density lipoprotein cholesterol, cholesterol accumulation in multiple tissues, peripheral neuropathy and accelerated atherosclerosis. Here we report three kindreds with Tangier disease. We describe two novel coding mutations in the ABCA1 gene that result in premature truncation of the protein as well as a novel intronic variant that leads to creation of a cryptic splice site acceptor resulting in aberrant mRNA splicing and premature truncation of the protein. We also show that this mutation arose de novo in the proband, the first demonstration of a pathogenic de novo mutation in ABCA1 associated with Tangier disease. Our findings expand the list of pathogenic mutations in ABCA1 and our understanding of how mutations in this gene lead to abnormal cellular and physiological phenotypes.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".