Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree

Zhen Song, Mo Li, Chang Wang, Yu Wang, Lihua Zhang, Na Li, Ruifang Yang & Ping Sun
Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms vary widely from none to blindness even within the same family. Multiple genes related to the Wnt pathway have been found to be associated with FEVR. Recent studies identified tetraspanin 12 (TSPAN12) as a cause of the autosomal dominant inheritance form of FEVR. Here, we describe a novel TSPAN12 mutation in a Chinese family with FEVR. Targeted next-generation sequencing...
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