Discovery and analysis of a novel mutation (G774E) in the Lysine Demethylase 6A (KDM6A) gene causing congenital heart disease with various neurodevelopmental disorders
Why this work is in the frame
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Bibliographic record
Abstract
Background: Congenital heart defects (CHD) are the most common birth defects, affecting approximately 0.8% of live births worldwide. CHD impairs the function and structure of the heart and blood vessels. Due to this damage, blood flow is impaired, which affects many major organs, including the brain, and causes various neurodevelopmental disorders.Methods: In this study, we recruited a five-generation pedigree for analysis. The proband was born with congenital heart disease and subsequently developed various neurodevelopmental disorders. To understand the causes of the disease, we performed clinical whole-exome sequencing and applied various bioinformatics tools to determine the pathogenicity of the mutation.Results: Molecular investigation revealed a novel lethal mutation (c.2321G>A) in KDM6A, causing the substitution of Glycine to Glutamic acid (Gly774Glu). The mutation was further confirmed using Sanger sequencing. Various bioinformatics tools were used to predict the lethality of the mutations. KDM6A disruption causes various diseases, among which Kabuki syndrome is the most prevalent.Conclusion: Our findings may aid in the further development of genome-based medicines, leading to a reduction in mortality rates and improved healthcare in newborns.Keywords:Congenital heart disease, Kabuki syndrome, Neurodevelopmental disorder, Whole exome sequencing, Novel mutation
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it