A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

Li PengErkuan DaiHaodong XiaoRulian ZhaoYunqi HeShujin LiMu YangZhenglin YangPeiquan Zhao

Published in: Molecular genetics & genomic medicine (2022)

Our study revealed a novel frameshift variant D179Rfs*6 in TSPAN12 that is inherited in an autosomal dominant manner. We found that D179Rfs*6 caused a failure to activate Norrin/β-catenin signaling. This finding broadens the variant spectrum of TSPAN12 and provides invaluable information for the molecular diagnosis of FEVR.

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