IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

Schorderet, Daniel F; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal (2013). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. BioMed research international, 2013(198089), p. 198089. Hindawi Publishing Corporation 10.1155/2013/198089

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology

UniBE Contributor:

Escher, Pascal

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2314-6133

Publisher:

Hindawi Publishing Corporation

Language:

English

Submitter:

PD Dr. Pascal Escher

Date Deposited:

10 Jul 2017 10:34

Last Modified:

31 Jul 2017 08:31

Publisher DOI:

10.1155/2013/198089

PubMed ID:

23484092

BORIS DOI:

10.7892/boris.101787

URI:

https://boris.unibe.ch/id/eprint/101787

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