Article
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Human mutation - 1 Feb 2020
Duerinckx Sarah, Jacquemin Valérie, Drunat Séverine, Vial Yoann, Passemard Sandrine, Perazzolo Camille, Massart Annick, Soblet Julie, Racapé Judith, Desmyter Laurence, Badoer Cindy, Papadimitriou Sofia, Le Borgne Yann-Aël, Lefort Anne, Libert Frédérick, De Maertelaer Viviane, Rooman Marianne, Costagliola Sabine, Verloes Alain, Lenaerts Tom, Pirson Isabelle, Abramowicz Marc
Abstract excerpt
Primary microcephaly (PM) is characterized by a small head since birth and is vastly heterogeneous both genetically and phenotypically. While most cases are monogenic, genetic interactions between Aspm and Wdr62 have recently been described in a mouse model of PM. Here, we used two complementary, holistic in vivo approaches: high throughput DNA sequencing of multiple PM genes in human patients with PM, and...
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