The spectrum of mutations in the patients presenting with ABCA4-associated Stargardt's disease in a Russian population
Notice bibliographique
Résumé
Introduction. Stargardt's disease is a hereditary retinal dystrophy characterized by the early manifestation and the progressive deterioration of visual acuity. The spectrum of mutations in the ABCA4 gene associated with this pathology in the Russian Federation has not been fully investigated. Aim. The objective of the present study was to elucidate the spectrum of mutations in the ABCA4 gene in the Russian patients presenting Stargardt's disease. Materials and methods. The study included a total of 38 unrelated patients at the age varying from 6 to 48 (mean 20 ± 8.9) years having the clinically confirmed diagnosis of Stargardt's disease. The search of mutations in DNA extracted from the peripheral blood lymphocytes of the patients was carried out with the use of a set of oligonucleotide primers (Ion Ampliseq Inherited Disease Panel; Life Technologies, USA). The Ion Torrent PGM Sequencer (Life Technologies, USA) was used for the parallel semiconductor sequencing of the gene-coding regions. All the patients underwent the standard ophthalmological examination, electroretinography, optical coherence tomography, and fundus autofluorescence. Results. We established the spectrum of mutations in the ABCA4 gene in the patients of a Russian population suffering from autosomal-recessive Stargardt's disease. We identified 45 alleles responsible for the development of this condition. 14 of them had been earlier described in the Russian patients while 19 were discovered for the first time in this country although they had been known to occur in other populations. Moreover, we described 12 novel heterozygous variations, viz. c.230T>A (rs61748527), c.4956T>G (rs61750561), c.2820>G (rs81749445). c.5226delT, c.2537A>T, c.57353T, c.893delG, c.702 insATC, c.3896T>G, c.1356delA, c.1341delGAT, and c.231insGAAAA. Discussion. The study has revealed the rather variable phenotype in the patients presenting with ABCA4-associated Stargardt's disease. A wide variety of mutations were shown to be responsible for the difference of the clinical picture of this condition in individual patients. The comparison of the genotypes and the phenotypes has demonstrated the differential effect of the concrete mutations. Conclusion. The spectrum of mutations in the patients presenting with ABCA4-associated Stargardt's disease in the surveyed Russian population is different from that in other populations. We have revealed 12 previously unknown mutations; moreover 19 mutations have been described for the first time in this country although they had been previously known to occur in other populations.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».