A Novel <i>AMELX</i> Mutation, Its Phenotypic Features, and Skewed X Inactivation
Bibliographic record
Abstract
Amelogenesis imperfecta (AI) is a group of genetic disorders of defective dental enamel. Mutation of AMELX encoding amelogenin on the X chromosome is a major cause of AI. Here we report a Chinese family with hypoplastic and hypomineralized AI. Whole exome analysis revealed a novel mutation c.185delC in exon 5 of AMELX causing the frame shift p.Pro62ArgfsTer47 (or p.Pro62Argfs*47). By sequencing of polymerase chain reaction products and T-vector clones, the mutation was confirmed as homozygous in the proband, hemizygous in her father, and heterozygous in her mother. The proband and her father had small and yellowish teeth with thin and rough enamel that was radiographically indistinguishable from the underlying dentin. Scanning electronic microscopy of 1 maternal tooth showed cracks and exposed loosely packed enamel prisms in affected areas. Consistent with a 25:75 skewing of X inactivation in the peripheral blood DNA as measured by androgen receptor allele methylation, the surface of the mother’s tooth had alternating vertical ridges of transparent normal and white chalky enamel in a 34:66 ratio. In summary, this study provides one of the few phenotypic comparisons of hemizygous and homozygous AMELX mutations and suggests that the skewing of X inactivation in AI contributes to the phenotypic variations in heterozygous carriers of X-linked AI.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
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 | 0.001 | 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 | 0.001 |
| 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".