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

doi:10.1093/brain/awx218

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Article

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

Brain : a journal of neurology - 1 Oct 2017

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

Abstract excerpt

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 microlissencephaly, the pathophysiological basis of this condition remains poorly understood. We performed trio-based whole exome...

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PMID: 28969387
DOI: 10.1093/brain/awx218

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