WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

• Published in: Brain (London, England : 1878) Vol. 140; no. 10; pp. 2597 - 2609
• Main Authors: Cavallin, Mara, Rujano, Maria A, Bednarek, Nathalie, Medina-Cano, Daniel, Bernabe Gelot, Antoinette, Drunat, Severine, Maillard, Camille, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Beneteau, Claire, Besnard, Thomas, Cogné, Benjamin, Eveillard, Marion, Kuster, Alice, Poirier, Karine, Verloes, Alain, Martinovic, Jelena, Bidat, Laurent, Rio, Marlene, Lyonnet, Stanislas, Reilly, M Louise, Boddaert, Nathalie, Jenneson-Liver, Melanie, Motte, Jacques, Doco-Fenzy, Martine, Chelly, Jamel, Attie-Bitach, Tania, Simons, Matias, Cantagrel, Vincent, Passemard, Sandrine, Baffet, Alexandre, Thomas, Sophie, Bahi-Buisson, Nadia
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.10.2017
• Subjects: Animals; Animals, Genetically Modified; Brain - diagnostic imaging; Brain - pathology; Cells, Cultured; Child, Preschool; Drosophila; Drosophila Proteins - genetics; Drosophila Proteins - metabolism; Female; Fibroblasts - cytology; Fibroblasts - pathology; Gene Expression Regulation - genetics; Human health and pathology; Humans; Ki-67 Antigen - metabolism; Life Sciences; Male; Microcephaly - diagnostic imaging; Microcephaly - genetics; Microcephaly - pathology; Mitosis - genetics; Mutation - genetics; Nerve Tissue Proteins - genetics; Neural Stem Cells - cytology; Neural Stem Cells - pathology; Neurons and Cognition; Pediatrics; RNA Interference - physiology; Young Adult; microcephaly; ponto-cerebellar hypoplasia; WDR81; microlissencephaly
• ISSN: 0006-8950; 1460-2156; 1460-2156
• DOI: 10.1093/brain/awx218

Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the recent identification of six genes involved in microlissencepha...