Mutational analysis of the<i>HGSNAT</i>gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Bibliographic record
Abstract
Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is an autosomal recessive disease caused by a failure to degrade heparan sulphate. There are four subtypes of MPS III, each categorized by a deficiency in a specific enzyme involved in the heparan sulphate degradation pathway. The genes mutated in three of these (MPS IIIA, MPS IIIB, and MPS IIID) have been cloned for some time. However, only very recently has the gene for MPS IIIC (heparin acetyl CoA: alpha-glucosaminide N-acetyltransferase, or HGSNAT) been identified. Its product (previously termed transmembrane protein 76, or TMEM76) has little sequence similarity to other proteins of known function, although it is well conserved among all species. In this study, a group of MPS IIIC patients, who are mainly of Italian origin, have been clinically characterized. Furthermore, mutational analysis of the HGSNAT gene in these patients resulted in the identification of nine alleles, of which eight are novel. Three splice-site mutations, three frameshift deletions resulting in premature stop codons, one nonsense mutation, and two missense mutations were identified. The latter are of particular interest as they are located in regions which are predicted to be of functional significance. This research will aid in determining the molecular basis of HGSNAT protein function, and the mechanisms underlying MPS IIIC.
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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 | 0.001 | 0.002 |
| 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".