Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

• Published in: Nature genetics Vol. 45; no. 6; pp. 639 - 647
• Main Authors: Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.06.2013; Nature Publishing Group
• Subjects: 692/699/375/366; Agriculture; Animal Genetics and Genomics; Animals; Bioinformatics; Biomedicine; Cancer Research; Cell Movement; Cercopithecus aethiops; COS Cells; Cytoplasmic Dyneins - genetics; Deoxyribonucleic acid; DNA; Exome; Experiments; Gene Function; Gene mutations; Genetic aspects; Genetic Association Studies; Germ-Line Mutation; Health aspects; Human Genetics; Humans; Hydrolysis; Kinesin - genetics; Life Sciences; Lissencephaly - genetics; Lissencephaly - pathology; Magnetic Resonance Imaging; Malformations of Cortical Development - genetics; Malformations of Cortical Development - pathology; Mice; Microcephaly; Microcephaly - genetics; Microcephaly - pathology; Migration; Models, Molecular; Mutation; Mutation, Missense; Neuroimaging; Neurons and Cognition; Pedigree; Physiological aspects; Proteins; Risk factors; Saccharomyces cerevisiae; Sequence Analysis, DNA; Studies; Tubulin - genetics; Tubulins; France

Jamel Chelly, Nicholas Cowan and colleagues report mutations in TUBG1 , DYNC1H1 , KIF2A and KIF5C in individuals with malformations of cortical development and microcephaly. Their findings emphasize the importance of centrosomal and microtubule-related proteins for normal brain development. The gene...