Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.

Teresa G Krieger, Carla M Moran, Alberto Frangini, W Edward Visser, Erik Schoenmakers, Francesco Muntoni, Chris A Clark, David Gadian, Wui K Chong, Adam Kuczynski, Mehul Dattani, Greta Lyons, Alexandra Efthymiadou, Faraneh Varga-Khadem, Benjamin D Simons, Krishna Chatterjee & Frederick J Livesey
Mutations in the thyroid hormone receptor α 1 gene (THRA) have recently been identified as a cause of intellectual deficit in humans. Patients present with structural abnormalities including microencephaly, reduced cerebellar volume and decreased axonal density. Here, we show that directed differentiation of THRA mutant patient-derived induced pluripotent stem cells to forebrain neural progenitors is markedly reduced, but mutant progenitor cells can generate deep and upper cortical layer neurons and form functional neuronal networks. Quantitative...
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