The mutation P392L of the sequestosome 1 gene in Paget's disease of bone is frequent in the French population
Bibliographic record
Abstract
Paget's disease of bone (PDB) is a chronic disease of the skeleton that affects 3% of the Caucasian population aged over 40 years. PDB often segregates as an autosomal dominant trait. Genetic heterogeneity has been demonstrated, with at least 2 PDB loci, on chromosomes 18 (18q23) and 5 (5q35-qter). At the chromosome 5 locus, (Laurin et al. Am J Hum Genet 2002; 70:1582–1588) identified in the sequestosome 1 (SQSTM1) gene, involved in the RANK (receptor activator of NF-κB) pathway, a recurrent mutation (P392L) present in 16% of the sporadic PDB patients in the French Canadian population. Genetic testing is clinically relevant, as it could lead, in families carrying the mutation, to early diagnosis at the clinically asymptomatic stage, when early treatment could be attempted to prevent complications. However, it is not known whether this mutation is specific to the Cana-dian population or is frequent in other Caucasian populations. To evaluate the frequency of the SQSTM1 P392L mutation in the French Caucasian population. Nineteen French Caucasian patients with sporadic PDB underwent genetic testing. The search for the mutation relied on a PCR-RFLP assay. The P392L mutation of SQSTM1 was detected in 2 patients out of 19 (11%). The P392L mutation of the SQSTM1 gene in PDB is frequent in the French Caucasian population. Investigation of other European populations would be of interest. Genetic testing of PDB patients in France is indicated, aiming at early diagnosis in relatives of patients carrying the mutation.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".