A case of PSMC5-associated neurodevelopmental proteasomopathy
Bibliographic record
Abstract
A 7-year-old male was seen in consultation by a Clinical Genetics team for bone marrow failure and global developmental delay. He was born to non-consanguineous White parents of Western European descent. He was born at term by spontaneous vaginal delivery after an unremarkable pregnancy. He presented to care in the neonatal period with congenital thrombocytopenia, which evolved over time into unexplained bone marrow failure. Additional medical issues included childhood-onset seizures treated with levetiracetam, bilateral hearing loss requiring hearing aids, non-congenital scoliosis requiring bracing, joint instability requiring ankle foot orthoses, and multiple aspiration pneumonias leading to gastrostomy tube insertion for feeding. He had hypotonia and global developmental delay without stagnation or regression. Brain MRI in early childhood identified mild global hypomyelination. At age 7 years, his cognitive functioning had not yet been formally assessed. He had a diagnosis of autism spectrum disorder and was non-verbal. He was able to walk independently with an abnormal gait, and to climb stairs (not descend) with assistance. He could do some limited tracing with a pencil, but required someone to hold his hand to do so accurately. He had undergone extensive molecular and cytogenetic testing earlier in life for the bone marrow failure that was non-diagnostic. Chromosomal microarray analysis revealed normal male copy number. Trio exome sequencing identified a de novo missense variant in PSMC5 [NM_002805.5: c.973C>T;p.(Arg325Trp)]. On examination at age 7 years, his height z-score was -0.62, his weight z-score was -1.12, he was normocephalic, and he was noted to have distinctive facial features (see photo).
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.003 | 0.002 |
| 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, 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".