Novel mutations A210G and L15Q TBX5 gene in the patients with non-syndromic congenital defects of the heart septal
Bibliographic record
Abstract
The TBX5 transcription factor plays an important role during morphogenesis and development of the heart. Mutations in this gene often lead to Holt-Oram syndrome (HOS). This study identified mutations in patients with non-syndromic congenital heart defects (CHD). Screening for mutations TBX5 gene in non-syndromic CHD, including 100 patients with a septal defect and 50 healthy subjects as controls were performed by the technique of high-resolution melt (HRM). Exons were sequenced for samples that showed HRM curve differences compared to controls. Structural stability and pathogenic potential of mutated protein were evaluated by bioinformatics analysis. HRM curve analysis showed that the curves of three samples deviated from the curves of controls. Sequencing showed three heterozygous missense mutations including two novel mutations NM_000192.3:c.44T>G, (p.L15Q), NM_000192.3c.629C>G (p.A210G) and a known mutation NM_000192.3:c.331G>T (p.D111Y). The PolyPhen-2 software predicted the p.D111Y and p.A210G substitutions to be disease-causing and p.L15Q as possibly benign, while protein structural stability analysis by MUpro and DynaMut suggested that these mutations reduce stability and increase the flexibility of the protein. This study presents two novel missense mutations within the TBX5 gene that may be causal for non-syndrome CHD.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| 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".