A Novel Missense Mutation in <i>LIS1</i> in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism
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Bibliographic record
Abstract
Mutations in the LIS1 gene result in isolated lissencephaly or subcortical band heterotopia. We report a 5-year-old male who presented with seizures and global developmental delay. Magnetic resonance imaging (MRI) demonstrated posteriorly predominant pachygyria and subcortical band heterotopia. His mother had a history of epilepsy, with onset in her teenage years. Her MRI revealed no abnormalities. Sequence analysis of the LIS1 gene identified a novel p.H389Y mutation in exon 11 (c.1165C>T). The child's mother was found to have the identical mutation as her son, with the signal intensity of the mutant allele being much lower than the normal allele, suggesting somatic mosaicism. This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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 it