A novel <i>ZMIZ1</i> variant associated with NEDDFSA and new ocular features: case report and review of literature
Bibliographic record
Abstract
Introduction Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to ZMIZ1 genetic variants. We present a novel ZMIZ1 variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.Methods Genetic testing performed on a large panel revealed a likely pathogenic de novo variant in the ZMIZ1 gene (heterozygous, c.881C>T), consistent with a molecular diagnosis of an autosomal dominant ZMIZ1-related condition. This variant was predicted to result in the amino acid substitution p.Thr294Ile. We also conducted a targeted literature review for reported cases of ZMIZ1 variants and associated phenotypes by searching MEDLINE through PubMed and Google Scholar from inception to May 2024. References and abstracts were screened independently by two authors. Review of the literature permitted the analysis of 27 cases of ZMIZ1 variants in patients with syndromic phenotypes.Results The most common ophthalmic finding was ptosis (35%). Refractive error was common (myopia in 20%, hyperopia in 12%). Other findings included strabismus (12%) and amblyopia (16%).Discussion We describe a novel ZMIZ1 variant associated with NEDDFSA and previously undescribed ocular features. Our literature review summarizes the ophthalmic findings in this seldom encountered disorder, thus providing clear and concise data for clinicians and improving patient care.
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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) | 0.001 | 0.001 |
| Bibliometrics | 0.007 | 0.005 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| 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".