IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.

Détails

Ressource 1Télécharger: BIB_45D23B9489BC.P001.pdf (1640.52 [Ko])
Etat: Serval
Version: Final published version
ID Serval
serval:BIB_45D23B9489BC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
Périodique
Biomed Research International
Auteur(s)
Schorderet D.F., Iouranova A., Favez T., Tiab L., Escher P.
ISSN
2314-6141 (Electronic)
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
2013
Pages
198089
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library, Roche NimbleGen) for 60 retinitis pigmentosa-linked genes and three candidate genes (942 exons). Pyrosequencing was performed on a Roche 454 GS Junior benchtop high-throughput sequencing platform. In total, 23 patients affected by retinitis pigmentosa were analyzed. Per patient, 39.6 Mb were generated, and 1111 sequence variants were detected on average, at a median coverage of 17-fold. After data filtering and sequence variant prioritization, disease-causing mutations were identified in ABCA4, CNGB1, GUCY2D, PROM1, PRPF8, PRPF31, PRPH2, RHO, RP2, and TULP1 for twelve patients (55%), ten mutations having never been reported previously. Potential mutations were identified in 5 additional patients, and in only 6 patients no molecular diagnosis could be established (26%). In conclusion, targeted exon capture and next-generation sequencing are a valuable and efficient approach to identify disease-causing sequence variants in retinal dystrophies.
Pubmed
Open Access
Oui
Création de la notice
08/04/2013 9:04
Dernière modification de la notice
08/05/2019 17:54
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