Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene <i>RGS16 </i>(<i>RGS-r</i>)
Bibliographic record
Abstract
Editor—Retinitis pigmentosa (RP, MIM 268000) is the term applied to a clinically and genetically heterogeneous group of retinal degenerations primarily affecting the rod photoreceptors. RP is characterised by progressive loss of vision, initially manifesting as night blindness and reduction in the peripheral visual field, and later involving loss of central vision.1 Ophthalmoscopic examination typically shows pigmentary disturbances of the mid-peripheral retina. RP may be inherited as an autosomal recessive, autosomal dominant, digenic, or X linked trait. Autosomal recessive RP (ARRP) accounts for around 20% of all cases of RP, while sporadic RP, which is presumed to be recessive in most cases, accounts for a further 50%.2 Mutations causing autosomal recessive RP (ARRP) have been found in the genes encoding rhodopsin,3 the α and β subunits of rod phosphodiesterase,4 5 the α subunit of the cyclic GMP gated channel protein,6 and the genes RPE65 ,7 8 RLBP1 ,9 ABCR ,10 and TULP1 .11 12 In addition, genetic linkage studies have identified ARRP loci at 1q31-q32.1,13 14 2q31-q33,156cen-q15,16 and 16p12.1-p12.3.17 (MIM numbers for the loci identified by these studies are 180380, 180071, 180072, 123825, 180069, 180090, 601708, 600132, 600105, and 602594 respectively. No MIM number has yet been assigned to the 2q31-q33 and 6cen-q15 loci.) Of these four loci, only linkage to the 1q31-q32.1 locus (RP12) and the 6cen-q15 locus has been reported in more than one pedigree. The first report of linkage of ARRP to 1q31-q32.1 was in a large inbred Dutch family with ARRP in which most patients exhibited para-arteriolar preservation of the retinal pigment epithelium (PPRPE).13This was followed by linkage of a second, consanguineous, pedigree from Pakistan.14 In both the Dutch and the Pakistani families there was evidence that only …
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| 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".