Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

@article{Kuechler2015LossoffunctionVO,
  title={Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome},
  author={Alma Kuechler and Alexander Michael Zink and Thomas Wieland and H. -J. L{\"u}decke and Kirsten Cremer and Leonardo Salviati and Pamela Magini and Kimia Najafi and Christiane Zweier and Johanna Christina Czeschik and Stefan Aretz and Sabine Endele and Federica Tamburrino and Claudia Pinato and Maurizio Clementi and Jasmin Gundlach and Carina Maylahn and Laura Mazzanti and Eva Wohlleber and Thomas Schwarzmayr and Roxana Kariminejad and Avner Schlessinger and Dagmar Wieczorek and Tim Matthias Strom and Gaia Novarino and Hartmut Engels},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={753-760}
}
Intellectual disability (ID) has an estimated prevalence of 2–3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. To identify further genes involved in ID, we performed WES in 250 patients with unexplained ID and their unaffected parents and included exomes of 51 previously sequenced child–parents trios in the analysis… CONTINUE READING
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Genetic and epigenetic networks in intellectual disabilities

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