<i>BBS7</i>and<i>TTC8</i>(<i>BBS8</i>) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population
Bibliographic record
Abstract
Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addition, the role of putative modifier genes on phenotype severity; NXNL1 and MGC1203 c.430C>T, was assessed. Genotype-phenotype correlation was explored in patients with identified mutations. Four novel pathogenic BBS7 changes were identified in 2/35 families (5.7%). In one family with two affected individuals with BBS7 mutations, a more severe phenotype was observed in association with a third mutation in BBS4. The overall retinal phenotype appeared more severe than that seen in patients with BBS1 mutations. This study confirms the small role of BBS7 and TTC8 in the overall mutational load of BBS patients. The variability of the ocular phenotype observed, could not be explained by the putative modifier genes; NXNL1 and MGC1203 c.430C>T.
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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".