A novel <i>GJA8</i> mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract
Bibliographic record
Abstract
Cataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract.1 Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons,2,3 and other disease modifying strategies must be considered. A strong genetic predisposition to the development of congenital cataract and age related cataract has been well documented.4,5 Inherited cataract accounts for at least 50% of all congenital cataracts,6 and shows marked inter- and intrafamilial variation.7 Twin studies on age related cataracts in the United Kingdom estimate that two thirds of cortical cataract and at least half of nuclear cataracts can be explained by genetic factors.8,9 Previous genetic studies of congenital cataracts identified connexin 50 ( Cx50 ) as a cataract related gene.10–12 Here we report a novel heterozygous R23T mutation in the GJA8 gene (MIM#600897) encoding connexin 50, in an Iranian family affected by a progressive autosomal dominant congenital nuclear cataract. In addition, to determine the genetic contribution of connexin 50 mutations to the basis of congenital and age related cataracts for our mutation (R23T) and the other three published Cx50 mutations (P88S, E48K, and I247M)10–12, two additional patient populations were screened for those changes. ### Key points
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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".