Article
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nature genetics - 1 Dec 2014
Martin Carol-Anne, Ahmad Ilyas, Klingseisen Anna, Hussain Muhammad Sajid, Bicknell Louise S, Leitch Andrea, Nürnberg Gudrun, Toliat Mohammad Reza, Murray Jennie E, Hunt David, Khan Fawad, Ali Zafar, Tinschert Sigrid, Ding James, Keith Charlotte, Harley Margaret E, Heyn Patricia, Müller Rolf, Hoffmann Ingrid, Cormier-Daire Valérie, Dollfus Hélène, Dupuis Lucie, Bashamboo Anu, McElreavey Kenneth, Kariminejad Ariana, Mendoza-Londono Roberto, Moore Anthony T, Saggar Anand, Schlechter Catie, Weleber Richard, Thiele Holger, Altmüller Janine, Höhne Wolfgang, Hurles Matthew E, Noegel Angelika Anna, Baig Shahid Mahmood, Nürnberg Peter, Jackson Andrew P
Abstract excerpt
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical features of ciliopathies. Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and...
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