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• W2034987906 abstract "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." @default.
• W2034987906 created "2016-06-24" @default.
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• W2034987906 date "2013-01-01" @default.
• W2034987906 modified "2023-10-02" @default.
• W2034987906 title "IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies" @default.
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• W2034987906 doi "https://doi.org/10.1155/2013/198089" @default.
• W2034987906 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3591198" @default.
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