Founder effect for the T93M<i>DHCR7</i>mutation in Smith‐Lemli‐Opitz syndrome
Bibliographic record
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive MCA-MR disorder caused by mutations within the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. It is a panethnic condition with variable mutation frequencies in different populations. Ten Cuban patients and four Canadian patients of Mediterranean ancestry with SLOS are reported herein. All these patients are at the mild end of the clinical spectrum (the highest Kelley-Hennekam severity score was 28 in one patient). All patients had genotypes which were compound heterozygous or homozygous for T93M; in all the Mediterranean patients the T93M mutation appeared to be associated with the J haplotype. Another compound heterozygote for T93M was of Ukrainian/Irish ancestry; in this patient the T93M was associated with a new haplotype designated K. The T93M mutation was initially reported as the most common in a series of patients from Italy. Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".