A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
Bibliographic record
Abstract
Monilethrix is a rare condition characterized by a hair shaft anomaly known as beaded hair. It can show either an autosomal dominant or an autosomal recessive inheritance pattern. The autosomal dominant form of monilethrix is caused by mutations in the basic hair keratin genes KRT81, KRT83 or KRT86, while the autosomal recessive form results from mutations in the desmoglein 4 (DSG4) gene. We define the molecular basis of monilethrix in a Japanese patient who has had sparse and fragile scalp hairs since birth. We performed mutation analysis of candidate genes. In addition, we performed co-immunoprecipitation assays and immunofluorescence studies in cultured cells to investigate the functional consequences caused by a mutation. Mutation analysis resulted in the identification of novel compound heterozygous mutations, c.624delG (p.M208IfsX4) and c.2468G>A (p.W823X), in the DSG4 gene of the patient. Furthermore, we show that the mutant DSG4 protein with the mutation p.W823X severely affects the affinity to plakoglobin protein, which may contribute to disruption of desmosomes in the patient's hair shaft. Our results further underscore the crucial role of the DSG4 gene in differentiation of the hair shaft in humans.
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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 | 0.000 | 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 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".