Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient withARVD
Bibliographic record
Abstract
Arrhythmogenic right ventricular dysplasia (ARVD) is a serious genetic disorder, usually with autosomal dominant inheritance, which can lead to sudden cardiac death in young individuals and athletes. The genes known to be associated with ARVD are five genes for desmosome proteins plus another three for non-desmosomal proteins. Here we present a patient with serious symptoms of ARVD (including ventricular tachycardia and sudden cardiac arrest), who carries three potentially pathological mutations in three diffe rent genes. Two missense mutations in ANKRD1 and TMEM43 gene respectively and one mutation, in PKP2, which causes aberrant splicing were detected. We hypothesized that the combination of these three pathological mutations could be the reason for the lethal course of the disease. Moreover, we assume that mutations in ANKRD1 gene, which were previously shown to be responsible for dilated cardiomyopathy and hypertrophic cardiomyopathy, could be associated also with ARVD.
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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 | 0.003 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.004 | 0.002 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.003 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| 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".