Novel MYT1L gene mutation and cerebral palsy: A case report
Bibliographic record
Abstract
Over the last decade, a body of genes that may underlie cerebral palsy causation has been elaborated. The objective of this case report is to highlight the possible implication of a loss-of-function pathogenic variant in myelin transcription factor-1 like (MYT1L) gene, not associated with cerebral palsy in prior literature, in the development of cerebral palsy. Our patient is a 22-month-old female referred for specialty evaluation of developmental delay who was subsequently diagnosed with spastic quadriplegic cerebral palsy. Normal magnetic resonance imaging and the finding of microcephaly prompted genetic analysis, which revealed a MYT1L pathogenic variant. Based on the critical function of MYT1L in brain development and based on the reported phenotypes associated with MYT1L, we conclude that a MYT1L pathogenic variant could contribute to the development of cerebral palsy. We therefore recommend that in cases of cerebral palsy where no acquired causes are identified and where, despite neurological findings beyond cerebral palsy (i.e., microcephaly), magnetic resonance imaging is normal, a genetic etiology should be suspected. In these cases, genetic testing should include testing specifically for the MYT1L gene as well as the other genes known to be associated with cerebral palsy.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.003 | 0.002 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.005 | 0.003 |
| Science and technology studies | 0.005 | 0.004 |
| Scholarly communication | 0.003 | 0.004 |
| Open science | 0.003 | 0.004 |
| Research integrity | 0.010 | 0.006 |
| 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".