Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.
Bibliographic record
Abstract
PURPOSE: Mutations in the hotspot of RP1 are reportedly responsible for 4-7% of autosomal dominant retinitis pigmentosa (ADRP) in the United States, Canada, and Europe. South Africa (SA) has unique subpopulations and a comparatively low observed frequency of rhodopsin mutations, which lead to this investigation of the contribution of RP1 mutations to the ADRP disease burden in SA. METHODS: Fifty-seven affected, unrelated South African individuals with ADRP were selected for mutation screening of the RP1 hotspot, using denaturing high performance liquid chromatography (HPLC). Variants were identified by direct sequencing, after which cosegregation analysis and population frequency studies were performed using restriction fragment length polymorphism analysis, nondenaturing HPLC, or denaturing HPLC. RESULTS: Three mutations were identified, including two novel sequence variations and the common Arg677X mutation. A wide spectrum of disease severity was observed in the families with these RP1 gene mutations. Two nondisease-associated polymorphisms were also detected, with the frequency of one of these variants being significantly low in Black African individuals. CONCLUSIONS: Mutations were only found in Caucasian families with origins in the British Isles. The observed RP1 mutation frequency of 5.3% in SA ADRP patients is comparable to the frequency reported in other populations.
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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".