An epiphanic case of X-linked Alport syndrome caused by a hitherto unreported COL4A5 gene mutation
Bibliographic record
Abstract
Alport Syndrome (AS) is an inherited glomerular disease, which invariably progresses to End Stage Kidney Disease (ESRD). It can be associated with hearing impairment and ocular defects. The disease can be X-linked caused by mutations in the Type 4 Collagen alpha 5 chain (COL4A5), Autosomal Recessive (ARAS) or Autosomal Dominant (ADAS) caused by mutations in the Type 4 Collagen alpha 3 chain (COL4A3) or alpha 4 chain (COL4A4). We report a novel mutation in COL4A5 Gene causing XLAS resulting in Chronic Kidney Disease in a 34-year-old male. Whole genome sequencing of the patient, showed hemizygous variant (c.1690G>C, p. Gly564Arg) in the COL4A5 gene. The same variant was detected in his mother and his only daughter establishing that the mutation is pathogenic.
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".