Article
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Human mutation - 1 Apr 2015
Reinstein Eyal, Orvin Katia, Tayeb-Fligelman Einav, Stiebel-Kalish Hadas, Tzur Shay, Pimienta Allen L, Bazak Lily, Bengal Tuvia, Cohen Lior, Gaton Dan D, Bormans Concetta, Landau Meytal, Kornowski Ran, Shohat Mordechai, Behar Doron M
Abstract excerpt
We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia. Genetic analysis revealed a homozygous missense mutation in TAX1BP3, which encodes a small PDZ domain containing protein implicated in regulation of the Wnt/β-catenin signaling pathway, as the causative mutation. The mutation affects a conserved residue located at the core of...
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