CDK10 gene mutation in a Chinese girl with Al Kaissi syndrome
Bibliographic record
Abstract
Abstract Background Al Kaissi syndrome is an autosomal recessive developmental disorder caused by variants in the CDK10 gene with a variable clinical presentation characterized by growth retardation, spinal deformities, especially the cervical spine, facial deformities, psychomotor development retardation with moderate to severe intellectual disability.Methods A 9 years and 5 months old Chinese girl with short stature, mental retardation, special facial features, sacral and coccygeal "Dimple"-like depression, a slightly smaller pituitary gland, and cervical spine deformity was diagnosed with Al Kaissi syndrome by whole-exome sequencing showing a CDK10 gene mutation.Results Gene sequencing results showed that the child had a heterozygous mutation c.739C > T (p.Q247X) (NM_052988 exon 10) and a mutation c.663C > G > T (p.D221E) (NM_052988 exon 9) in the CDK10 gene. The compound heterozygous mutation was verified by one generation of the family. This conforms to the recessive inheritance pattern of the disease. The associated disease is consistent with the clinical manifestations of the patient. The compound heterozygous mutation can lead to the occurrence of the disease.Conclusion The first case of Al Kaissi syndrome reported in China expands the phenotypic and genotypic spectrum of Al Kaissi syndrome.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| 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".