De novo mutations in the genome organizer CTCF cause intellectual disability.

@article{Gregor2013DeNM,
  title={De novo mutations in the genome organizer CTCF cause intellectual disability.},
  author={Anne Gregor and Martin Oti and Evelyn Nathalie Kouwenhoven and Juliane Hoyer and Heinrich Sticht and Arif B. Ekici and Susanne Kjaergaard and Anita Rauch and Hendrik G. Stunnenberg and Steffen Uebe and Georgia Vasileiou and Andr{\'e} Reis and Huiqing Zhou and Christiane Zweier},
  journal={American journal of human genetics},
  year={2013},
  volume={93 1},
  pages={124-31}
}
An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth retardation. Furthermore, an individual with a larger deletion including CTCF was… CONTINUE READING
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