Duane Retraction Syndrome Associated with a Small X Chromosome Deletion
Bibliographic record
Abstract
This report describes the genetic evaluation of a girl with bilateral Duane retraction syndrome (DRS), cleft palate, and mildly reduced hearing who was found by high-resolution array-comparative genomic hybridization (array CGH) to have a chromosomal anomaly involving a single gene known to be involved in muscle development.The study was approved by the Institutional Review Board of the College of Medicine at King Saud University, Riyadh, Saudi Arabia, and informed consent was obtained.Patients' medical records were reviewed, including multiple examinations by both the Ophthalmology and Otolaryngology Departments at King Abdulaziz University Hospital over a period of almost 15 years.Data extracted included family history, complete ophthalmologic and neurologic examinations, laboratory results, and neuroimaging.Genes associated with syndromic DRS (SALL4, CHN1, TUBB3, HOXA1, and KIF21A) were sequenced; the complete coding regions of the SALL4, CHN1, TUBB3, and HOXA1 genes and exons 8, 20, and 21 considered hotspot for mutations in the KIF21A gene were sequenced according to protocols described previously. 1 The Affymetrix Cytogenetics Whole-Genome 2.7M array (Affymetrix Inc., Santa Clara, CA, USA) was used to detect known and novel chromosomal aberrations across the entire genome.The array CGH assay was performed according to the manufacturer's instructions as detailed elsewhere. 1Data were analyzed using the Affymetrix Chromosome Analysis Suite, v1.2, software.In the absence of internationally recognized criteria for analysis of high-resolution array CGH results, we devised preliminary criteria for a copy number variant (CNV) to be considered potentially pathologic, including: (1) it was not reported in the Database of Genomic Variants (DGV; http://projects.tcag.ca/variation/)among normal controls; (2) it was not present in 150 healthy controls of similar ethnicity; (3) it included an area of the genome encompassing one or more functional genes; and (4) it segregated with the phenotype and was not present in unaffected family members.The threshold for gain or loss was adjusted to 10 kb.We used the National Center for Biotechnology Information Human Genome Assembly Build 35.The proband was a 16-year-old girl with bilateral type 3 DRS.Her parents were first cousins.Her father was reportedly asymptomatic, but her mother had congenital strabismus that was treated with strabismus surgery during childhood.Three of her mother's seven siblings reportedly had congenital strabismus as well.These individuals could not be examined, but none had features of DRS by report.The proband had four unaffected siblings and a brother with congenital left superior oblique palsy.
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How this classification was reachedexpand
Direct model labels (unvalidated)
Per-model category and study-design labels from the labeling rounds. They are machine output, unvalidated, and the disagreement between models ships as data. No study design here is MEDLINE-validated yet.
| Model arm | Categories | Study design | Confidence |
|---|---|---|---|
| gemma | no category Domain: not available · Genre: Empirical About the Canadian research system: no · About a Canadian topic: no | Case report | high |
| gpt | no category Domain: not available · Genre: Empirical About the Canadian research system: no · About a Canadian topic: no | Case report | medium |
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 | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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, unvalidatedLabeled directly by 2 models reading the full record.
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".