A Duplication Mutation in KCNQ1 Gene in Romano-Ward Syndrome
Bibliographic record
Abstract
ABSTRACTRomano-Ward syndrome (RWS, Long QT syndrome 1) is a rare familial congenital cardiac disorder characterized by a prolonged QT interval on electrocardiograph. RWS may occur due to the mutations in KCNQ1 gene. Our case was a 27-year-old male patient with post-exercise syncope attacks and pre-syncope chest pain. QT interval was 660 ms on ECG. The KCNQ1 gene was sequenced and a heterozygous twelve base duplication was identified that causes a non-frameshift insertion of four new amino acids (QRQK) in the protein chain between amino acids 262-263. The patient was prescribed with metoprolol and cardioverter defibrillator was implanted. The patient was followed-up and he was discharged.Keywords: Long QT syndrome, KCNQ1, Romano-Ward syndrome ÖZETRomano-Ward sendromu (RWS, Uzun QT sendromu 1) EKG’de uzamış QT aralığı ile karakterize bir ailevi konjenital kalp hastalığıdır. RWS KCNQ1 genindeki mutasyonlarla oluşabilmektedir. 27 yaşındaki erkek hastamızda senkop öncesi göğüs ağrıları ve efor sonrası senkop atakları vardı. EKG’de 660 milisaniyeyi bulan QT intervalleri vardı. Sekans analizinde 262-263. aminoasitler arasına giren 4 (QRQK) aminoasit ile oluşan ve çerçeve kayması yapmayan 12 bazlık bir heterozigot mutasyon tespit edildi. Hastaya metoprolol reçete edildi ve cardioverter defibrilatör implante edildi. Takiplerin ardından hasta taburcu edildi.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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 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".