<i>HYDIN</i> Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians
Bibliographic record
Abstract
To the Editor:Primary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in chronic sino-oto-pulmonary infections, bronchiectasis, and organ laterality defects (Online Mendelian Inheritance in Man #244400).Various PCD diagnostic tests are recommended per American Thoracic Society and European Respiratory Society clinical practice guidelines (1, 2), including nasal nitric oxide (nNO) measurement, ciliary ultrastructural analysis on transmission electron microscopy (TEM), ciliary beat pattern analysis with high-speed video microscopy, and genetic testing for PCD-related genes.However, no single diagnostic test detects all forms of PCD.In the past two decades, more than 50 PCD-related genes have been discovered ( 3), but most commercial genetic multigene panels analyze only a portion of these using next-generation sequencing (NGS) techniques.Recently, a known PCD gene, HYDIN (HYDIN axonemal central pair apparatus protein; chromosome 16, NM_001270974.2,Online Mendelian Inheritance in Man #608647), rarely associated with PCD and mostly in consanguineous individuals from the Faroe Islands (c.922A.T [p.Lys308Ter]; ClinVar identifier 39699), was implicated in 8% of suspected European PCD cases with normal organ arrangement (situs solitus) (4).Inherited in an autosomalrecessive pattern and encoding a ciliary protein in the central apparatus, HYDIN is a large gene (85 coding exons, 5,121 amino acids), with biallelic pathogenic variants causing PCD.The phenotypic characteristics are reported as situs solitus, normal results on TEM, and low nNO (5).Presence of the nearly identical pseudogene HYDIN2 (HYDIN axonemal central pair apparatus protein 2; chromosome 1) complicates mutational analysis, as additional steps are necessary to ascertain the identified variants map on HYDIN.Hence, most commercial genetic panels do not include variant analysis of this large, complex, and seemingly rare PCD gene.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.005 | 0.002 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 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".