A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome
Why this work is in the frame
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Bibliographic record
Abstract
ATAD3A is a mitochondrial AAA + ATPase protein localized between the inner and outer mitochondrial membrane1; its role includes the stabilization of mitochondrial DNA, the regulation of mitochondrial fission/fusion, and the regulation of cholesterol homeostasis.1,2 Harel-Yoon syndrome (HYS) can result from biallelic deletions in the ATAD3 gene cluster (containing ATAD3A , ATAD3B , and ATAD3C ) and is associated with cerebellar and brainstem atrophy, hypotonia, encephalopathy, and death in the first days and weeks of life.3,4 A less severe presentation has been reported in those with biallelic missense variants.4,5 This attenuated form of HYS presents with developmental delay, cataracts, seizures, and optic and cerebellar atrophy with individuals living into adulthood.4,5 The findings are consistent with a genotype-phenotype correlation based on the variant type.6,7 The authors thank and acknowledge the patient and her family for their participation in this study. Also, the authors would like to acknowledge the Care4Rare Research Consortium.
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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 it