Article
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
American journal of human genetics - 1 Oct 2015
Symoens Sofie, Barnes Aileen M, Gistelinck Charlotte, Malfait Fransiska, Guillemyn Brecht, Steyaert Wouter, Syx Delfien, D'hondt Sanne, Biervliet Martine, De Backer Julie, Witten Eckhard P, Leikin Sergey, Makareeva Elena, Gillessen-Kaesbach Gabriele, Huysseune Ann, Vleminckx Kris, Willaert Andy, De Paepe Anne, Marini Joan C, Coucke Paul J
Abstract excerpt
The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie a complex congenital syndrome, showing clinical overlap between lethal skeletal dysplasias and ciliopathies. This syndrome is characterized by fetal lethality,...
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