MG-108 Agenesis of the corpus callosum and autism associated with zeb1 gene deletion – a case report
Bibliographic record
Abstract
Background Agenesis of the corpus callosum (ACC) is a rare congenital anomaly presenting with partial or complete absence of the corpus callosum (CC). ACC could present as an isolated finding or a part of a genetic syndrome. A recent publication reported two cases of mal-development of CC in two unrelated individuals with posterior polymorphous corneal dystrophy (PPCD), an autosomal dominant inherited disorder of the corneal endothelium. Both cases presented novel deletions of the ZEB1 gene. *ZEB1 mutations are reported in approximately one third of PPCD patients. Objective To report a case of a child with ACC and de novo chromosome 10 deletion involving ZEB1 gene. Case report: a 12-year-old girl presented with facial dysmorphism, bilateral renal reflux, developmental delay, autism and ACC. She presented with normal growth parameters, continued to acquire new developmental skills with no regression episodes or seizures. Ophthalmological exam showed thinning of the retinal nerve fibre layer in the nasal aspect around the discs with relative sparing of the macular areas bilaterally. The rest of the ocular examination, including corneal exam was normal. Results Whole genome sequencing revealed heterozygous de novo deletion in chromosome 10p11.23- p11.22 (del:chr10:30814000–32892000) overlapping ZEB1 gene. Conclusion This is the third case reported of ZEB1 gene deletion in a patient with CC anomalies, and the first patient with no corneal anomalies but with autism. This finding might imply a broader phenotypic range for ZEB1 deletion than previously thought and add it to the possible causes of autism.
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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) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 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".