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Pubmed ID :22427576
Publication Date : //

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).


Familial exudative vitreoretinopathy (FEVR) is an inherited disorder that disrupts the development of the retinal vasculature and can result in blindness. FEVR is genetically heterogeneous and mutations in four genes, NDP, FZD4, LRP5, and TSPAN12, encoding components of a novel ligand-receptor complex that activates the Norrin-β-catenin signaling pathway, account for approximately 50% of cases. We recently identified mutations in TSPAN12 as a cause of dominant FEVR. The purpose of this study was to identify recessive TSPAN12 mutations in FEVR patients.

Authors : Poulter James A , Davidson Alice E , Ali Manir , Gilmour David F , Parry David A , Mintz-Hittner Helen A , Carr Ian M , Bottomley Helen M , Long Vernon W , Downey Louise M , Sergouniotis Panagiotis I , Wright Genevieve A , MacLaren Robert E , Moore Anthony T , Webster Andrew R , Inglehearn Chris F , Toomes Carmel ,

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