Article
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
American journal of human genetics - 7 Sept 2012
Kheradmand Kia Sima, Verbeek Elly, Engelen Erik, Schot Rachel, Poot Raymond A, de Coo Irenaeus F M, Lequin Maarten H, Poulton Cathryn J, Pourfarzad Farzin, Grosveld Frank G, Brehm António, de Wit Marie Claire Y, Oegema Renske, Dobyns William B, Verheijen Frans W, Mancini Grazia M S
Abstract excerpt
Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer molecular layer. We have identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicrogyria from two separate families. Rotatin determines early embryonic axial rotation, as well as anteroposterior and...
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