Genetic Defects in Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

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, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys.

Source: The American Journal of Human Genetics - September 10, 2015 Category: Genetics & Stem Cells Authors: Sofie Symoens, Aileen M. Barnes, Charlotte Gistelinck, Fransiska Malfait, Brecht Guillemyn, Wouter Steyaert, Delfien Syx, Sanne D’hondt, Martine Biervliet, Julie De Backer, Eckhard P. Witten, Sergey Leikin, Elena Makareeva, Gabriele Gillessen-Kaesbac Tags: Article Source Type: research