Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization
Bibliographic record
Abstract
Bardet-Biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial polydactyly, hypogenitalism, obesity, and mental retardation. Five BBS loci have been identified; among them, BBS type 1 (BBS1) and type 3 (BBS3) are most common and most rare, respectively. We encountered an Iranian family that had seven affected members. All patients had a history of mild to severe obesity, but it was reversible in some patients by caloric restriction and exercise. All patients had pigmentary retinopathy, beginning as night blindness in early childhood and progressing toward severe impairment of vision by the end of the second decade. Polydactyly varied in limb distribution, ranging from four-limb involvement to random involvement or even to nonaffectedness. Six of the seven patients were not mentally retarded. Although kidney anomaly or an adrenal mass was pres- ent in two patients, the fact that one patient had seven children rules out reproductive dysfunction. Linkage analysis with microsatellite markers showed that the disease in the family was assigned to a region around marker loci at 3p13-p12 (maximum LOD score = 4.15 and recombination fraction straight theta = 0, at D3S1603 microsatellite marker), to which the BBS3 locus has been mapped. Haplotype analysis did not reduce the extent of the previously reported critical region of BBS3. A comparison of clinical manifestations of our patients with those of previously reported BBS3 patients did not support any type-specific phenotypes, though manifestations in our patients are similar to those in BBS3 patients of a family in Newfoundland.
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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) | 0.000 | 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".