Article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Human genetics - 1 Nov 2022
Neitzel Heidemarie, Varon Raymonda, Chughtai Sana, Dartsch Josephine, Dutrannoy-Tönsing Véronique, Nürnberg Peter, Nürnberg Gudrun, Schweiger Michal, Digweed Martin, Hildebrand Gabriele, Hackmann Karl, Holtgrewe Manuel, Sarioglu Nanette, Schulze Bernt, Horn Denise, Sperling Karl
Abstract excerpt
The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, altered PLK4 expression is associated with aneuploidy in human embryos. Here, we report on a consanguineous four-generation family with 8 affected individuals compound heterozygous for a novel missense...
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