Compound Heterozygous Mutations in Vitamin D Receptor Gene in Two Sisters With Hereditary Vitamin D Resistant Rickets Type II
Bibliographic record
Abstract
Background: Hereditary vitamin D resistant rickets (HVDRR) type II , is a rare autosomal recessive disorder with known heterogeneity in clinical features, response to treatment and presence or absence of vitamin D receptor (VDR) gene mutation. Here, we described VDR gene mutations in 2 sisters with HVDRR with correlation to clinical features, and response to treatment. Methods: Vitamin D receptor gene sequence analysis was performed for exons 2 and 3, in addition to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for exons 7 and 8. Patients, their parents, their elder sister and brother were studied. Treatment with high dose vitamin D, response to therapy, and 30 months follow up were recorded for both patients. Results: A novel heterozygous point mutation (c.A155G) at the initiation codon of exon 3 was found in the 2 patients, their father and their healthy brother. This point mutation changed the amino acid (aa) at position 51 of the VDR from serine to glycine (p.Ser51Gly) at the start of the second zinc finger of the DNA-binding domain of the VDR. Exon 7 showed a heterozygous mutation in both patients and their mother. The mutation was located at the 970 base pair (bp) of VDR. Patients responded well to high doses oral calcium and Alfacalcidol without relapse of their rickets for the whole follow up period. Conclusion: Compound heterozygous mutation was identified in the VDR gene in 2 sisters with HVDRR. This mutation resulted in HVDRR without alopecia that was responsive to high dose vitamin D therapy. doi:10.4021/jem41w
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".