Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by <scp><i>CAPN15</i></scp> Pathogenic Variants
Bibliographic record
Abstract
Oculogastrointestinal neurodevelopmental syndrome (OGIN; OMIN #619318) is a rare autosomal recessive disorder resulting from pathogenic variants in the CAPN15 gene. OGIN syndrome has been previously seen to affect many different body systems and has been described to cause coloboma, imperforate anus, structural cardiac defects, and horseshoe kidneys. There is still little information about the phenotypic spectrum of this disease. This case series aims to describe the phenotypic spectrum and development of affected individuals. Our study includes eight patients-five patients previously described, and three newly identified patients from centers in Ontario and Quebec ranging from three to 15 years of age. All the French-Canadian patients in our cohort were homozygous for the c. 1838C>T (p. Ser613Leu) variant. We also describe a non-French-Canadian patient who is compound heterozygous for the variants c.1957G>A (p. Gly653Ser) (paternally inherited) and c.2520delC p. Val841Trpfs133 (maternally inherited). Through this cohort, we describe some rare manifestations of OGIN syndrome; all four female patients had vaginal fistulae, and four of the patients had sensorineural hearing loss. All eight patients had pancreatic insufficiency requiring pancreatic enzyme replacement. More research is needed to investigate the genotype-phenotype correlation, as well as assess long-term complications and natural history of the disease.
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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 | 0.001 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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".