MG-131 ZNF259 is a candidate gene for alopecia-primordial dwarfism-renal syndrome (APDRS)
Bibliographic record
Abstract
APDRS is characterised by congenital alopecia, dwarfism and hypoplastic kidneys. This syndrome was observed in 5 Hispanic New Mexican children from four families. All had symmetric intrauterine growth and progressively severe postnatal growth restriction. Skin colour is very pale with a porcelain-like appearance. Affected children have a prominent forehead, deep-set eyes, downturned corners of the mouth and full cheeks. One had cleft palate, two had shunted hydrocephalus and both males had genital hypoplasia. All had severe global delays and sensorineural hearing loss. Four children died within the first two years of life, from uremia and/or sepsis. The surviving patient is a 16 yo girl with renal failure, central fat distribution and type1 diabetes. Whole exome sequencing performed on the surviving patient and her unaffected parents yielded a homozygous missense mutation at a highly conserved locus of the ZNF259 gene, both parents were carriers. Sanger sequencing of unaffected parents and siblings of a deceased patient demonstrated parents and one sibling were heterozygous carriers of the mutation. The parents of a third affected were found to be heterozygous carriers of the same mutation, patient DNA was unavailable. These results suggest a founder mutation in these families. ZNF259 encodes a zinc finger protein that has been demonstrated to play an important role in transcription, DNA synthesis and cell proliferation. Down-regulation of ZNF259 results in arrest at G1 and G2 phases of cell cycle. Western blot on patient fibroblasts demonstrated a loss of ZNF259 protein and cell cycle analysis is currently underway.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".