MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

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Blanchet, P.; Bebin, M.; Bruet, S,; Cooper, G.M.; Thompson, M.L.; Duban-Bedu, B.; Gerard, B.; Piton, A.; Suckno, S.; Deshpande, C.; Clowes, V.; Vogt, J.; Turnpenny, P.; Williamson, M.P.; Alembik, Y.; Consortium, C.S.E.R.S.; Consortium, D.D.D.; Glasgow, E.; McNeill, A.; (2017)
  • Publisher: Public Library of Science (PLoS)

Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that sing... View more