Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

被引：55

作者：

Carrigan, Matthew ^{[1
]}

Duignan, Emma ^{[2
]}

Malone, Conor P. G. ^{[2
]}

Stephenson, Kirk ^{[3
]}

Saad, Tahira ^{[3
]}

McDermott, Ciara ^{[1
]}

Green, Andrew ^{[4
]}

Keegan, David ^{[3
]}

Humphries, Peter ^{[1
]}

Kenna, Paul F. ^{[1
,2
]}

Farrar, G. Jane ^{[1
]}

机构：

[1] Trinity Coll Dublin, Sch Genet & Microbiol, Dublin, Ireland

[2] Royal Victoria Eye & Ear Hosp, Res Fdn, Dublin, Ireland

[3] Mater Misericordiae Univ Hosp, Dublin, Ireland

[4] Our Ladys Childrens Hosp, Dublin, Ireland

来源：

SCIENTIFIC REPORTS | 2016年 / 6卷

基金：

爱尔兰科学基金会;

关键词：

SINGLE NUCLEOTIDE POLYMORPHISMS; DOMINANT RETINITIS-PIGMENTOSA; MOLECULAR DIAGNOSIS; RHODOPSIN GENE; MUTATION; CONE; GENOME; ROD; IDENTIFICATION; ACCURATE;

D O I：

10.1038/srep33248

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable genetic diagnoses. Targeted sequencing was performed on 539 individuals from 309 inherited retinal disease pedigrees. Causative mutations were identified in the majority (57%, 176/309) of pedigrees. We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa. Population statistics reporting the genes most commonly implicated in retinal disease in the cohort are presented, as are some diagnostic conundrums that can arise during such studies. Inherited retinal diseases represent an exemplar group of disorders for the application of panel-based next-generation sequencing as an effective tool for detection of causative mutations.

引用

页数：9

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