TY - JOUR
T1 - Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
AU - Poulter, James
AU - Ali, Manir
AU - Gilmour, David
AU - Rice, A
AU - Kondo, Hiroyuki
AU - Hayashi, Kenshi
AU - Mackey, David
AU - Kearns, Lisa
AU - Ruddle, Jonathan
AU - Craig, Jamie
AU - Pierce, Eric
AU - Downey, L
AU - Mohamed, Moin
AU - Markham, A
AU - Inglehearn, Chris
AU - Toomes, C
PY - 2010/2/12
Y1 - 2010/2/12
N2 - Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-β-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this signaling complex, Tspan12. Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR. We describe seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known FEVR genes. This study provides further evidence for the importance of the Norrin-β-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified.
AB - Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-β-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this signaling complex, Tspan12. Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR. We describe seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known FEVR genes. This study provides further evidence for the importance of the Norrin-β-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified.
UR - http://www.scopus.com/inward/record.url?scp=76049125294&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2010.01.012
DO - 10.1016/j.ajhg.2010.01.012
M3 - Article
VL - 86
SP - 248
EP - 253
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -