Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
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DOI：
10.1038/ejhg.2012.172
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发表时间：
2013-03-01
影响因子：
5.2
通讯作者：
Nemeth, Andrea H.
中科院分区：
文献类型：
--
作者：
Shanks, Morag E.;Downes, Susan M.;Nemeth, Andrea H.
Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence similar to 1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing. We investigated targeted capture combined with next-generation sequencing using Nimblegen 12plex arrays and the Roche 454 sequencing platform to explore its potential for clinical diagnostics in two common types of IRD, retinitis pigmentosa and cone-rod dystrophy. 50 patients (36 unknowns and 14 positive controls) were screened, and pathogenic mutations were identified in 25% of patients in the unknown, with 53% in the early-onset cases. All patients with new mutations detected had an age of onset
