The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9‐cM region on chromosome 11q23
Bibliographic record
Abstract
Horizontal gaze palsy associated with progressive scoliosis (HGPS) is a rare autosomal recessive condition that has been recently mapped to a 30-cM region on chromosome 11q23-25. In this report, we describe a consanguineous family in which three of five sibs are affected with HGPS. In two of the affected sibs, there was significant cognitive delay in addition to congenital horizontal gaze palsy and childhood onset scoliosis. In all three affected sibs, magnetic resonance imaging (MRI) scans revealed brainstem hypoplasia, a finding that has recently been associated with HGPS. Clinical examination of the family showed no significant dysmorphic features, while karyotyping, EMG, nerve conduction, and muscle biopsies were unrevealing. Homozygosity mapping was performed to narrow the disease locus on 11q23-25. A recombination event was observed in one affected sib between markers D11S1345 and D11S4464, which further refined the region to a 9-cM interval. Since the MRI results provide support for the theory that maldevelopment of neurons in the abducens nuclei and caudal longitudinal fascicle is the cause for HGPS, we speculate on the existence of a gene in this 9-cM interval on chromosome 11q23, which is critical for brainstem development.
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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 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| 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".