Article
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PLoS genetics - 1 Aug 2017
Blanchet Patricia, Bebin Martina, Bruet Shaam, Cooper Gregory M, Thompson Michelle L, Duban-Bedu Benedicte, Gerard Benedicte, Piton Amelie, Suckno Sylvie, Deshpande Charu, Clowes Virginia, Vogt Julie, Turnpenny Peter, Williamson Michael P, Alembik Yves, Glasgow Eric, McNeill Alisdair
Abstract excerpt
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 single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deletion at 2p25.3. To examine this we sought MYT1L SNVs in exome...
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