Article
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
Scientific reports - 13 Oct 2015
Liu Yuan, Chen Xue, Xu Qihua, Gao Xiang, Tam Pancy O S, Zhao Kanxing, Zhang Xiumei, Chen Li Jia, Jia Wenshuang, Zhao Qingshun, Vollrath Douglas, Pang Chi Pui, Zhao Chen
Abstract excerpt
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnically matched...
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